A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963706



Internal ID18598946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113387152..113405002hg38UCSC Ensembl
Innerchr2:114144729..114162579hg19UCSC Ensembl
Innerchr2:113861199..113879049hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3817851
hg1917851
hg1817851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2200260, nssv2200264, nssv2200262, nssv2200258, nssv2200265, nssv2200256, nssv2200259, nssv2200261, nssv2200257, nssv2200263
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)nsv963706
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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