A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946494



Internal ID18593344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168578702..168580290hg38UCSC Ensembl
Innerchr1:168547940..168549528hg19UCSC Ensembl
Innerchr1:166814564..166816152hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381589
hg191589
hg181589
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1806476, nssv1806479, nssv1806480, nssv1806483, nssv1806482, nssv1806485, nssv1806484, nssv1806477, nssv1806478, nssv1806481
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesXCL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946494
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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