A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692197



Internal ID115863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101997196..101997303hg38UCSC Ensembl
chr13:102649546..102649653hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511931
Supporting Variants
Samples
Known GenesFGF14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692197
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004371


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