A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960136



Internal ID18248703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64491558..64492189hg38UCSC Ensembl
Innerchr17:62487675..62488306hg19UCSC Ensembl
Innerchr17:59918137..59918768hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38632
hg19632
hg18632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2106748, nssv2106743, nssv2106747, nssv2106746, nssv2106744, nssv2106745, nssv2106741, nssv2106742, nssv2106740, nssv2106749
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPOLG2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960136
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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