A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979181



Internal ID18614384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230567872..230575003hg38UCSC Ensembl
Innerchr2:231432587..231439718hg19UCSC Ensembl
Innerchr2:231140831..231147962hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387132
hg197132
hg187132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2223984, nssv2223989, nssv2223991, nssv2223990, nssv2223983, nssv2223992, nssv2223987, nssv2223986, nssv2223985, nssv2223988
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)nsv979181
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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