A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962302



Internal ID18597546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29716189..29720196hg38UCSC Ensembl
Innerchr17:28043207..28047214hg19UCSC Ensembl
Innerchr17:25067333..25071340hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384008
hg194008
hg184008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2090680, nssv2090684, nssv2090679, nssv2090685, nssv2090677, nssv2090676, nssv2090682, nssv2090681, nssv2090678, nssv2090683
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSSH2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962302
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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