A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971701



Internal ID18606918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124897241..124913429hg38UCSC Ensembl
Innerchr8:125909483..125925671hg19UCSC Ensembl
Innerchr8:125978664..125994852hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3816189
hg1916189
hg1816189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2518424, nssv2518422, nssv2518430, nssv2518428, nssv2518429, nssv2518427, nssv2518425, nssv2518431, nssv2518423, nssv2518426
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)nsv971701
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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