A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962335



Internal ID18250893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47568535..47592516hg38UCSC Ensembl
Innerchr17:45645901..45669882hg19UCSC Ensembl
Innerchr17:43000900..43024881hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3823982
hg1923982
hg1823982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2099813, nssv2099816, nssv2099817, nssv2099810, nssv2099819, nssv2099818, nssv2099814, nssv2099811, nssv2099815, nssv2099812
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNPEPPS
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962335
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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