A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960460



Internal ID18249025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31257923..31264867hg38UCSC Ensembl
Innerchr17:29584941..29591885hg19UCSC Ensembl
Innerchr17:26609067..26616011hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386945
hg196945
hg186945
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2090609, nssv2090614, nssv2090608, nssv2090612, nssv2090610, nssv2090613, nssv2090611, nssv2090607, nssv2090606, nssv2090605
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)nsv960460
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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