A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978427



Internal ID18613632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42938710..42945992hg38UCSC Ensembl
Innerchr17:41090727..41098009hg19UCSC Ensembl
Innerchr17:38344253..38351535hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387283
hg197283
hg187283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2098477, nssv2098478, nssv2098476, nssv2098474, nssv2098479, nssv2098471, nssv2098473, nssv2098480, nssv2098472, nssv2098475
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)nsv978427
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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