A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969004



Internal ID18604232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:148220041..148221372hg38UCSC Ensembl
Innerchr5:147599604..147600935hg19UCSC Ensembl
Innerchr5:147579797..147581128hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381332
hg191332
hg181332
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2382358, nssv2382361, nssv2382353, nssv2382356, nssv2382357, nssv2382354, nssv2382355, nssv2382352, nssv2382359, nssv2382360
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969004
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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