A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963771



Internal ID18252325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208236317..208236817hg38UCSC Ensembl
Innerchr2:209101041..209101541hg19UCSC Ensembl
Innerchr2:208809286..208809786hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2219046, nssv2219039, nssv2219041, nssv2219040, nssv2219048, nssv2219045, nssv2219042, nssv2219044, nssv2219047, nssv2219043
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIDH1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963771
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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