A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691221



Internal ID114887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100669402..100672937hg38UCSC Ensembl
chr13:101321656..101325191hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg383536
hg193536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498545
Supporting Variants
Samples
Known GenesTMTC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691221
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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