A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979233



Internal ID18614436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94831576..94834670hg38UCSC Ensembl
Innerchr2:95497321..95500415hg19UCSC Ensembl
Innerchr2:94861048..94864142hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383095
hg193095
hg183095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2666815, nssv2666813, nssv2666864, nssv2666810, nssv2666816, nssv2666812, nssv2666856, nssv2666865, nssv2666857, nssv2666860, nssv2666861, nssv2666817, nssv2666811, nssv2666858, nssv2666809, nssv2666814, nssv2666863, nssv2666859, nssv2666862, nssv2666808
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979233
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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