A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692576



Internal ID116242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99302838..99302894hg38UCSC Ensembl
chr13:99955092..99955148hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512404
Supporting Variants
Samples
Known GenesGPR183, MIR548AN, UBAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692576
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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