A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946040



Internal ID18592890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:86505280..86508375hg38UCSC Ensembl
Innerchr1:86970963..86974058hg19UCSC Ensembl
Innerchr1:86743551..86746646hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg383096
hg193096
hg183096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1774845, nssv1774846, nssv1774850, nssv1774843, nssv1774849, nssv1774841, nssv1774848, nssv1774842, nssv1774847, nssv1774844
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)nsv946040
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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