A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692601



Internal ID116267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99760271..99760322hg38UCSC Ensembl
chr13:100412525..100412576hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560724
Supporting Variants
Samples
Known GenesCLYBL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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