A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691829



Internal ID115495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75466428..75466479hg38UCSC Ensembl
chr13:76040564..76040615hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425125
Supporting Variants
Samples
Known GenesTBC1D4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691829
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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