A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960132



Internal ID18248699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60851703..60856247hg38UCSC Ensembl
Innerchr17:58929064..58933608hg19UCSC Ensembl
Innerchr17:56283846..56288390hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg384545
hg194545
hg184545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2105961, nssv2105952, nssv2105960, nssv2105957, nssv2105953, nssv2105958, nssv2105955, nssv2105956, nssv2105954, nssv2105959
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesBCAS3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960132
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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