A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963238



Internal ID18598479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62559753..62562449hg38UCSC Ensembl
Innerchr2:62786888..62789584hg19UCSC Ensembl
Innerchr2:62640392..62643088hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg382697
hg192697
hg182697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2174956, nssv2174948, nssv2174957, nssv2174955, nssv2174953, nssv2174950, nssv2174949, nssv2174951, nssv2174954, nssv2174952
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)nsv963238
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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