A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946452



Internal ID18593302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159973638..159974492hg38UCSC Ensembl
Innerchr1:159943428..159944282hg19UCSC Ensembl
Innerchr1:158210052..158210906hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38855
hg19855
hg18855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1804495, nssv1804493, nssv1804499, nssv1804121, nssv1804497, nssv1804122, nssv1804500, nssv1804498, nssv1804494, nssv1804496
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLINC01133
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946452
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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