A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2196960



Internal ID17728682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111865235..111867857hg38UCSC Ensembl
Innerchr2:112622812..112625434hg19UCSC Ensembl
Innerchr2:112339283..112341905hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382623
hg192623
hg182623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979099
Supporting Variants
SamplesHGDP00456
Known GenesANAPC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2196960
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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