A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960089



Internal ID18248656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31348115..31348861hg38UCSC Ensembl
Innerchr17:29675133..29675879hg19UCSC Ensembl
Innerchr17:26699259..26700005hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38747
hg19747
hg18747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2090896, nssv2090901, nssv2090904, nssv2090902, nssv2090903, nssv2090899, nssv2090898, nssv2090900, nssv2090897, nssv2090895
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960089
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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