A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2198921



Internal ID17835653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113601312..113624289hg38UCSC Ensembl
Innerchr2:114358889..114381866hg19UCSC Ensembl
Innerchr2:114075359..114098336hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3822978
hg1922978
hg1822978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963711
Supporting Variants
SamplesHGDP00998
Known GenesDDX11L2, RPL23AP7
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)nssv2198921
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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