A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960525



Internal ID18595776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67222807..67225697hg38UCSC Ensembl
Innerchr17:65218923..65221813hg19UCSC Ensembl
Innerchr17:62649385..62652275hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382891
hg192891
hg182891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2107223, nssv2107221, nssv2107219, nssv2107215, nssv2107217, nssv2107220, nssv2107218, nssv2107222, nssv2107214, nssv2107216
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHELZ
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960525
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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