A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960042



Internal ID18595295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2586305..2587832hg38UCSC Ensembl
Innerchr17:2489599..2491126hg19UCSC Ensembl
Innerchr17:2436349..2437876hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381528
hg191528
hg181528
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2070903, nssv2070904, nssv2070909, nssv2070908, nssv2070906, nssv2070907, nssv2070905, nssv2070900, nssv2070901, nssv2070902
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)nsv960042
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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