A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946085



Internal ID18246249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94401746..94408931hg38UCSC Ensembl
Innerchr1:94867302..94874487hg19UCSC Ensembl
Innerchr1:94639890..94647075hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg387186
hg197186
hg187186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1777468, nssv1777472, nssv1777470, nssv1777471, nssv1777477, nssv1777474, nssv1777476, nssv1777469, nssv1777473, nssv1777475
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)nsv946085
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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