From: Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
Case | Der(acceptor) | Der(donor) | Deleted subsegments | Insertion site (acceptor) | Inserted segment (donor) |
---|---|---|---|---|---|
2F | ogm[GRCh38]der(10){10pter → 10q26.12( +)[121,121,448]::Xq23( +)[115,261,136] → Xq23( +)[115,618,502]::10q26.12( +)[121,127,008] → 10qter} | ogm[GRCh38]der(X){Xpter → Xq22.2( +)[103,893,393]::Xq24( +)[118,064,562] → Xqter} | ogm[GRCh38]del(X)(q22.2q23)chrX:g.103,893,393_115,261,136del, del(X)(q23q24)chrX:g.115,618,502_118,064,562del | K:8q21.2 O:10q26.12 | K:Xq22.2q22.1 O:Xq23q23 |
3F | ogm[GRCh38]der(16){16pter → 16q21( +)[58,071,355]::5q15(-)[94,414,513] → 5q14(−)[77,885,855]::5q15(−)[97,742,767] → 5q15(−)[94,414,513]::5q15(−)[97,859,297] → 5q15(−)[97,752,968]::5q12.3( +)[64,373,122] → 5q13.3( +)[77,231,399]::16q21( +)[58,074,067] → 16qter} | ogm[GRCh38]der(5){5pter → 5q12.3( +)[64,373,122]::5q15( +)[97,859,297] → 5qter} | ogm[GRCh38]del(5)(q15q15)chr5:g.77,176,413_77,902,580del | K:16q21 O:16q21 | K:5q15q13.1 O:5q15q12.3 |