A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961790



Internal ID18597036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71078177..71079177hg38UCSC Ensembl
Innerchr2:71305307..71306307hg19UCSC Ensembl
Innerchr2:71158815..71159815hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2175785, nssv2175783, nssv2175784, nssv2175788, nssv2175782, nssv2175786, nssv2175787, nssv2175781, nssv2175789, nssv2175780
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNAGK
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961790
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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