A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963615



Internal ID18598856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70296010..70298009hg38UCSC Ensembl
Innerchr2:70523142..70525141hg19UCSC Ensembl
Innerchr2:70376646..70378645hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382000
hg192000
hg182000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2174706, nssv2174698, nssv2174703, nssv2174705, nssv2174701, nssv2174697, nssv2174699, nssv2174702, nssv2174704, nssv2174700
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM136A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963615
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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