A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946477



Internal ID18593327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:164347075..164360234hg38UCSC Ensembl
Innerchr1:164316312..164329471hg19UCSC Ensembl
Innerchr1:162582936..162596095hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3813160
hg1913160
hg1813160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1803687, nssv1803685, nssv1803686, nssv1803682, nssv1803679, nssv1803681, nssv1803678, nssv1803683, nssv1803680, nssv1803684
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)nsv946477
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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