A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962357



Internal ID18597601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62259298..62291655hg38UCSC Ensembl
Innerchr17:60336659..60369016hg19UCSC Ensembl
Innerchr17:57691441..57723798hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3832358
hg1932358
hg1832358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2106218, nssv2106219, nssv2106217, nssv2106222, nssv2106215, nssv2106216, nssv2106224, nssv2106220, nssv2106221, nssv2106223
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTBC1D3P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962357
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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