A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960484



Internal ID18595735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38920848..38921985hg38UCSC Ensembl
Innerchr17:37077101..37078238hg19UCSC Ensembl
Innerchr17:34330627..34331764hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381138
hg191138
hg181138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2094403, nssv2094404, nssv2094407, nssv2094401, nssv2094402, nssv2094409, nssv2094410, nssv2094408, nssv2094405, nssv2094406
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLASP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960484
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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