A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961614



Internal ID18596860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94828570..94830616hg38UCSC Ensembl
Innerchr2:95494315..95496361hg19UCSC Ensembl
Innerchr2:94858042..94860088hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg382047
hg192047
hg182047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2667207, nssv2667168, nssv2667176, nssv2667177, nssv2667175, nssv2667169, nssv2667210, nssv2667202, nssv2667211, nssv2667173, nssv2667172, nssv2667203, nssv2667209, nssv2667204, nssv2667208, nssv2667170, nssv2667206, nssv2667174, nssv2667205, nssv2667171
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)nsv961614
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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