A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691830



Internal ID115496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75472612..75472680hg38UCSC Ensembl
chr13:76046748..76046816hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499502
Supporting Variants
Samples
Known GenesTBC1D4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691830
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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