A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946082



Internal ID18246246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93276328..93295876hg38UCSC Ensembl
Innerchr1:93741885..93761433hg19UCSC Ensembl
Innerchr1:93514473..93534021hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3819549
hg1919549
hg1819549
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1778944, nssv1778943, nssv1778948, nssv1778951, nssv1778949, nssv1778947, nssv1778946, nssv1778942, nssv1778945, nssv1778950
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC18
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946082
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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