A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960125



Internal ID18248692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57982604..57983198hg38UCSC Ensembl
Innerchr17:56059965..56060559hg19UCSC Ensembl
Innerchr17:53414964..53415558hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38595
hg19595
hg18595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2103393, nssv2103390, nssv2103389, nssv2103396, nssv2103391, nssv2103394, nssv2103398, nssv2103395, nssv2103397, nssv2103392
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesVEZF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960125
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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