A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968944



Internal ID18257486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73502535..73505916hg38UCSC Ensembl
Innerchr5:72798360..72801741hg19UCSC Ensembl
Innerchr5:72834116..72837497hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383382
hg193382
hg183382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2363655, nssv2363654, nssv2363652, nssv2363651, nssv2363647, nssv2363648, nssv2363649, nssv2363656, nssv2363650, nssv2363653
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBTF3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968944
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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