A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979152



Internal ID18614355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176338402..176338902hg38UCSC Ensembl
Innerchr2:177203130..177203630hg19UCSC Ensembl
Innerchr2:176911376..176911876hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2213684, nssv2213682, nssv2213691, nssv2213686, nssv2213689, nssv2213687, nssv2213685, nssv2213683, nssv2213688, nssv2213690
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979152
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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