A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978453



Internal ID18613658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64308426..64311387hg38UCSC Ensembl
Innerchr17:62385786..62388747hg19UCSC Ensembl
Innerchr17:59739518..59742479hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg382962
hg192962
hg182962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2108217, nssv2108225, nssv2108218, nssv2108224, nssv2108222, nssv2108223, nssv2108216, nssv2108221, nssv2108220, nssv2108219
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)nsv978453
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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