A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971351



Internal ID18606571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:126582515..126583302hg38UCSC Ensembl
Innerchr8:127594760..127595547hg19UCSC Ensembl
Innerchr8:127663942..127664729hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38788
hg19788
hg18788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2516784, nssv2516778, nssv2516779, nssv2516780, nssv2516786, nssv2516782, nssv2516785, nssv2516783, nssv2516781, nssv2516787
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)nsv971351
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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