A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946518



Internal ID18246682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178408182..178411811hg38UCSC Ensembl
Innerchr1:178377317..178380946hg19UCSC Ensembl
Innerchr1:176643940..176647569hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg383630
hg193630
hg183630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1806941, nssv1806944, nssv1806946, nssv1806943, nssv1806945, nssv1806938, nssv1806947, nssv1806942, nssv1806939, nssv1806940
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRASAL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946518
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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