A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946575



Internal ID18593425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201516460..201530833hg38UCSC Ensembl
Innerchr1:201485588..201499961hg19UCSC Ensembl
Innerchr1:199752211..199766584hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814374
hg1914374
hg1814374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1811452, nssv1811456, nssv1811449, nssv1811450, nssv1811451, nssv1811448, nssv1811454, nssv1811447, nssv1811455, nssv1811453
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS10P7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946575
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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