A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686892



Internal ID110558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36305091..36307563hg38UCSC Ensembl
chr13:36879228..36881700hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382473
hg192473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507812
Supporting Variants
Samples
Known GenesSPG20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686892
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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