A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2148660



Internal ID17732128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40846083..40854024hg38UCSC Ensembl
Innerchr19:41351988..41359929hg19UCSC Ensembl
Innerchr19:46043828..46051769hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg387942
hg197942
hg187942
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963049
Supporting Variants
SamplesHGDP00456
Known GenesCYP2A6
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)nssv2148660
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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