A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688250



Internal ID111916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59924041..59924041hg38UCSC Ensembl
chr13:60498175..60498175hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538380
Supporting Variants
Samples
Known GenesDIAPH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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