A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692633



Internal ID116299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100159930..100159981hg38UCSC Ensembl
chr13:100812184..100812235hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431018
Supporting Variants
Samples
Known GenesPCCA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692633
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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