A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2197930



Internal ID17767837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111878841..111882403hg38UCSC Ensembl
Innerchr2:112636418..112639980hg19UCSC Ensembl
Innerchr2:112352889..112356451hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383563
hg193563
hg183563
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961488
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)nssv2197930
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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