A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979111



Internal ID18614314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120210931..120217262hg38UCSC Ensembl
Innerchr2:120968507..120974838hg19UCSC Ensembl
Innerchr2:120684977..120691308hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg386332
hg196332
hg186332
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2202001, nssv2202005, nssv2202009, nssv2202006, nssv2202004, nssv2202007, nssv2202003, nssv2202002, nssv2202000, nssv2202008
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)nsv979111
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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