A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946016



Internal ID18592866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:81076234..81080946hg38UCSC Ensembl
Innerchr1:81541919..81546631hg19UCSC Ensembl
Innerchr1:81314507..81319219hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384713
hg194713
hg184713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1773211, nssv1773207, nssv1773208, nssv1773209, nssv1773215, nssv1773212, nssv1773210, nssv1773214, nssv1773206, nssv1773213
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946016
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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