A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694460



Internal ID118126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94448540..94448576hg38UCSC Ensembl
chr13:95100794..95100830hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548394
Supporting Variants
Samples
Known GenesDCT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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