A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692183



Internal ID115849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101579687..101579738hg38UCSC Ensembl
chr13:102232038..102232089hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421652
Supporting Variants
Samples
Known GenesITGBL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692183
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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