A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960527



Internal ID18249092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75167508..75171644hg38UCSC Ensembl
Innerchr17:73163603..73167739hg19UCSC Ensembl
Innerchr17:70675198..70679334hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384137
hg194137
hg184137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2109024, nssv2109027, nssv2109021, nssv2109022, nssv2109020, nssv2109029, nssv2109023, nssv2109025, nssv2109028, nssv2109026
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSUMO2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960527
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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