A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2139432



Internal ID17537604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21397151..21406484hg38UCSC Ensembl
Innerchr19:21579953..21589286hg19UCSC Ensembl
Innerchr19:21371793..21381126hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg389334
hg199334
hg189334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978789
Supporting Variants
SamplesHGDP01307
Known GenesZNF493
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)nssv2139432
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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