A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723903



Internal ID147569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48717651..48718504hg38UCSC Ensembl
chr19:49220908..49221761hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529877
Supporting Variants
Samples
Known GenesMAMSTR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723903
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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