A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946044



Internal ID18592894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:87448158..87452651hg38UCSC Ensembl
Innerchr1:87913841..87918334hg19UCSC Ensembl
Innerchr1:87686429..87690922hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg384494
hg194494
hg184494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1774090, nssv1774093, nssv1774098, nssv1774097, nssv1774089, nssv1774092, nssv1774095, nssv1774094, nssv1774091, nssv1774096
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)nsv946044
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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