A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978421



Internal ID18613626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39835666..39841232hg38UCSC Ensembl
Innerchr17:37991919..37997485hg19UCSC Ensembl
Innerchr17:35245445..35251011hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg385567
hg195567
hg185567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2095369, nssv2095368, nssv2095371, nssv2095370, nssv2095372, nssv2095367, nssv2095365, nssv2095364, nssv2095366, nssv2095363
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIKZF3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978421
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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