A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723608



Internal ID147274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45797397..45798818hg38UCSC Ensembl
chr19:46300655..46302076hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381422
hg191422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526725
Supporting Variants
Samples
Known GenesRSPH6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723608
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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