A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946184



Internal ID18593034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119514063..119515756hg38UCSC Ensembl
Innerchr1:120056686..120058379hg19UCSC Ensembl
Innerchr1:119858209..119859902hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381694
hg191694
hg181694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1785691, nssv1785694, nssv1785693, nssv1785697, nssv1785690, nssv1785695, nssv1785696, nssv1785689, nssv1785698, nssv1785692
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSD3B1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946184
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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