A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967566



Internal ID18256108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12297564..12382746hg38UCSC Ensembl
Innerchr8:12155001..12240255hg19UCSC Ensembl
Innerchr8:12199344..12284626hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3885183
hg1985255
hg1885283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2496420, nssv2496417, nssv2496415, nssv2496416, nssv2496414, nssv2496411, nssv2496419, nssv2496413, nssv2496418, nssv2496412
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDEFB130, FAM66A, LOC100133267, LOC649352
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967566
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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