A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964838



Internal ID18600074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34105540..34139574hg38UCSC Ensembl
Innerchr5:34105645..34139679hg19UCSC Ensembl
Innerchr5:34141402..34175436hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3834035
hg1934035
hg1834035
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2352519, nssv2352510, nssv2352514, nssv2352512, nssv2352513, nssv2352517, nssv2352518, nssv2352515, nssv2352511, nssv2352516
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC1QTNF3-AMACR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964838
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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