A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721464



Internal ID145130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12006505..12014315hg38UCSC Ensembl
chr19:12117320..12125130hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg387811
hg197811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527793
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721464
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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