A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962334



Internal ID18250892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47523341..47555198hg38UCSC Ensembl
Innerchr17:45600707..45632564hg19UCSC Ensembl
Innerchr17:42955706..42987563hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3831858
hg1931858
hg1831858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2099737, nssv2099733, nssv2099734, nssv2099735, nssv2099732, nssv2099729, nssv2099736, nssv2099730, nssv2099731, nssv2099738
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)nsv962334
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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