A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946019



Internal ID18592869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:81208669..81209364hg38UCSC Ensembl
Innerchr1:81674354..81675049hg19UCSC Ensembl
Innerchr1:81446942..81447637hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38696
hg19696
hg18696
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1773426, nssv1773418, nssv1773421, nssv1773422, nssv1773420, nssv1773419, nssv1773425, nssv1773423, nssv1773417, nssv1773424
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)nsv946019
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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