A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962851



Internal ID18598093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28688225..28692220hg38UCSC Ensembl
Innerchr22:29084213..29088208hg19UCSC Ensembl
Innerchr22:27414213..27418208hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg383996
hg193996
hg183996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2689653, nssv2689652, nssv2689655, nssv2689656, nssv2689654, nssv2689647, nssv2689650, nssv2689649, nssv2689651, nssv2689648
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCHEK2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962851
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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