A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961510



Internal ID18596756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130610736..130691652hg38UCSC Ensembl
Innerchr2:131368309..131449225hg19UCSC Ensembl
Innerchr2:131084779..131165695hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3880917
hg1980917
hg1880917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2204155, nssv2204160, nssv2204156, nssv2204152, nssv2204159, nssv2204153, nssv2204157, nssv2204161, nssv2204154, nssv2204158
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCYP4F30P, POTEJ
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961510
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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