A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962365



Internal ID18250923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:69318510..69319290hg38UCSC Ensembl
Innerchr17:67314651..67315431hg19UCSC Ensembl
Innerchr17:64826246..64827026hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38781
hg19781
hg18781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2110475, nssv2110476, nssv2110470, nssv2110472, nssv2110468, nssv2110467, nssv2110469, nssv2110474, nssv2110473, nssv2110471
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesABCA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962365
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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