A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946493



Internal ID18246657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:168541627..168545378hg38UCSC Ensembl
Innerchr1:168510865..168514616hg19UCSC Ensembl
Innerchr1:166777489..166781240hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg383752
hg193752
hg183752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1806388, nssv1806380, nssv1806381, nssv1806379, nssv1806385, nssv1806382, nssv1806387, nssv1806384, nssv1806383, nssv1806386
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesXCL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946493
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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