A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725414



Internal ID149080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53396620..53480237hg38UCSC Ensembl
chr19:53899873..53983491hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3883618
hg1983619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526099
Supporting Variants
Samples
Known GenesTPM3P9, ZNF761, ZNF765, ZNF813
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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