A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686579



Internal ID110245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30270517..30270568hg38UCSC Ensembl
chr13:30844654..30844705hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427100
Supporting Variants
Samples
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686579
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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