A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723575



Internal ID147241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45332787..45401000hg38UCSC Ensembl
chr19:45836045..45904258hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3868214
hg1968214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146300
Supporting Variants
Samples
Known GenesERCC2, KLC3, PPP1R13L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001308


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