A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919698



Internal ID13919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135106231..135106706hg38UCSC Ensembl
chr2:135863801..135864276hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441580
Supporting Variants
Samples
Known GenesRAB3GAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919698
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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