A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964938



Internal ID18253487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133990727..133991322hg38UCSC Ensembl
Innerchr5:133326418..133327013hg19UCSC Ensembl
Innerchr5:133354317..133354912hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38596
hg19596
hg18596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2377230, nssv2377226, nssv2377229, nssv2377222, nssv2377224, nssv2377228, nssv2377227, nssv2377221, nssv2377225, nssv2377223
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesVDAC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964938
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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