A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971672



Internal ID18606889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:80810587..80812933hg38UCSC Ensembl
Innerchr8:81722822..81725168hg19UCSC Ensembl
Innerchr8:81885377..81887723hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg382347
hg192347
hg182347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2509239, nssv2509237, nssv2509240, nssv2509243, nssv2509242, nssv2509236, nssv2509241, nssv2509238, nssv2509244, nssv2509235
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF704
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971672
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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