A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971316



Internal ID18606536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:63408418..63410339hg38UCSC Ensembl
Innerchr8:64320976..64322897hg19UCSC Ensembl
Innerchr8:64483530..64485451hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381922
hg191922
hg181922
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2505680, nssv2505683, nssv2505677, nssv2505675, nssv2505682, nssv2505684, nssv2505678, nssv2505679, nssv2505676, nssv2505681
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)nsv971316
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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