A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962356



Internal ID18250914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60809578..60813260hg38UCSC Ensembl
Innerchr17:58886939..58890621hg19UCSC Ensembl
Innerchr17:56241721..56245403hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg383683
hg193683
hg183683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2105393, nssv2105392, nssv2105390, nssv2105391, nssv2105387, nssv2105385, nssv2105388, nssv2105389, nssv2105386, nssv2105384
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)nsv962356
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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