A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960516



Internal ID18249081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60725360..60727493hg38UCSC Ensembl
Innerchr17:58802721..58804854hg19UCSC Ensembl
Innerchr17:56157503..56159636hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382134
hg192134
hg182134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2105292, nssv2105288, nssv2105293, nssv2105289, nssv2105290, nssv2105294, nssv2105291, nssv2105296, nssv2105295, nssv2105287
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)nsv960516
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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