A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960099



Internal ID18595352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39028690..39044940hg38UCSC Ensembl
Innerchr17:37184943..37201193hg19UCSC Ensembl
Innerchr17:34438469..34454719hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3816251
hg1916251
hg1816251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2094596, nssv2094603, nssv2094597, nssv2094601, nssv2094602, nssv2094604, nssv2094595, nssv2094598, nssv2094600, nssv2094599
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLRRC37A11P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960099
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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