A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960499



Internal ID18595750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48690586..48703700hg38UCSC Ensembl
Innerchr17:46767948..46781062hg19UCSC Ensembl
Innerchr17:44122947..44136061hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3813115
hg1913115
hg1813115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2100881, nssv2100877, nssv2100878, nssv2100882, nssv2100876, nssv2100880, nssv2100884, nssv2100883, nssv2100885, nssv2100879
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960499
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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