A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946109



Internal ID18246273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103614411..103633444hg38UCSC Ensembl
Innerchr1:104157033..104176066hg19UCSC Ensembl
Innerchr1:103958556..103977589hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3819034
hg1919034
hg1819034
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1781071, nssv1781067, nssv1781072, nssv1781068, nssv1781070, nssv1781073, nssv1781069, nssv1781066, nssv1781064, nssv1781065
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAMY2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946109
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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