A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978426



Internal ID18613631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42530931..42534029hg38UCSC Ensembl
Innerchr17:40682949..40686047hg19UCSC Ensembl
Innerchr17:37936475..37939573hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2098245, nssv2098246, nssv2098242, nssv2098247, nssv2098243, nssv2098239, nssv2098240, nssv2098244, nssv2098241, nssv2098248
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)nsv978426
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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