A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2134888



Internal ID17729748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14941526..14942220hg38UCSC Ensembl
Innerchr19:15052338..15053032hg19UCSC Ensembl
Innerchr19:14913338..14914032hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961190
Supporting Variants
SamplesHGDP00456
Known GenesOR7C2
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)nssv2134888
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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