A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687812



Internal ID111478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52486106..52553250hg38UCSC Ensembl
chr13:53060241..53127385hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3867145
hg1967145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144226
Supporting Variants
Samples
Known GenesTPTE2P3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687812
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.017134


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