A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946376



Internal ID18246540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149758306..149811551hg38UCSC Ensembl
Innerchr1:149729856..149783106hg19UCSC Ensembl
Innerchr1:147996480..148049730hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3853246
hg1953251
hg1853251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1798295, nssv1798301, nssv1798293, nssv1798297, nssv1798298, nssv1798296, nssv1798294, nssv1798300, nssv1798299, nssv1798292
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCGR1A, HIST2H2BF
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946376
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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