A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946593



Internal ID18246757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203239802..203267560hg38UCSC Ensembl
Innerchr1:203208930..203236688hg19UCSC Ensembl
Innerchr1:201475553..201503311hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3827759
hg1927759
hg1827759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816154, nssv1816152, nssv1816156, nssv1816150, nssv1816155, nssv1816153, nssv1816149, nssv1816157, nssv1816151, nssv1816148
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)nsv946593
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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