A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693814



Internal ID117480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113298886..113301858hg38UCSC Ensembl
chr13:113953201..113956173hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382973
hg192973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510160
Supporting Variants
Samples
Known GenesLAMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693814
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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