A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946503



Internal ID18593353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171444161..171455438hg38UCSC Ensembl
Innerchr1:171413300..171424577hg19UCSC Ensembl
Innerchr1:169679924..169691201hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3811278
hg1911278
hg1811278
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1807410, nssv1807415, nssv1807411, nssv1807416, nssv1807414, nssv1807408, nssv1807413, nssv1807409, nssv1807407, nssv1807412
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)nsv946503
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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