A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946471



Internal ID18246635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161683035..161690783hg38UCSC Ensembl
Innerchr1:161652825..161660573hg19UCSC Ensembl
Innerchr1:159919449..159927197hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg387749
hg197749
hg187749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1802318, nssv1802326, nssv1802319, nssv1802323, nssv1802325, nssv1802324, nssv1802320, nssv1802322, nssv1802327, nssv1802321
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRPL31P11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946471
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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