A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961609



Internal ID18596855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94798464..94802207hg38UCSC Ensembl
Innerchr2:95464209..95467952hg19UCSC Ensembl
Innerchr2:94827936..94831679hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383744
hg193744
hg183744
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2675400, nssv2675393, nssv2675395, nssv2675396, nssv2675398, nssv2675392, nssv2675394, nssv2675399, nssv2675401, nssv2675397
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)nsv961609
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer