A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978458



Internal ID18266977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68037130..68065243hg38UCSC Ensembl
Innerchr17:66033246..66061359hg19UCSC Ensembl
Innerchr17:63463708..63491821hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3828114
hg1928114
hg1828114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2109688, nssv2109690, nssv2109682, nssv2109686, nssv2109683, nssv2109687, nssv2109689, nssv2109684, nssv2109681, nssv2109685
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKPNA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978458
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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