A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2196881



Internal ID17766129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111802855..111865235hg38UCSC Ensembl
Innerchr2:112560432..112622812hg19UCSC Ensembl
Innerchr2:112276903..112339283hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3862381
hg1962381
hg1862381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963701
Supporting Variants
SamplesHGDP00542
Known GenesANAPC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2196881
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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