A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969417



Internal ID18604644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:70608295..70612374hg38UCSC Ensembl
Innerchr6:71317998..71322077hg19UCSC Ensembl
Innerchr6:71374719..71378798hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg384080
hg194080
hg184080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2413724, nssv2413717, nssv2413716, nssv2413718, nssv2413725, nssv2413722, nssv2413723, nssv2413719, nssv2413721, nssv2413720
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)nsv969417
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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