A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946017



Internal ID18592867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:81097610..81099398hg38UCSC Ensembl
Innerchr1:81563295..81565083hg19UCSC Ensembl
Innerchr1:81335883..81337671hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381789
hg191789
hg181789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1773307, nssv1773306, nssv1773308, nssv1773309, nssv1773311, nssv1773303, nssv1773305, nssv1773312, nssv1773304, nssv1773310
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)nsv946017
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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