A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2135039



Internal ID17833867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14827356..14829651hg38UCSC Ensembl
Innerchr19:14938168..14940463hg19UCSC Ensembl
Innerchr19:14799168..14801463hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382296
hg192296
hg182296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978777
Supporting Variants
SamplesHGDP00998
Known GenesOR7A5
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)nssv2135039
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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