A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692573



Internal ID116239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99231557..99233205hg38UCSC Ensembl
chr13:99883811..99885459hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381649
hg191649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494699
Supporting Variants
Samples
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692573
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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