A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946620



Internal ID18593470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207148914..207153830hg38UCSC Ensembl
Innerchr1:207322259..207327175hg19UCSC Ensembl
Innerchr1:205388882..205393798hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384917
hg194917
hg184917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1816501, nssv1816503, nssv1816499, nssv1816498, nssv1816504, nssv1816502, nssv1816500, nssv1816505, nssv1816496, nssv1816497
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)nsv946620
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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