A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441580



Internal ID220050
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 StatusM
Merged Variants
Supporting Variantsnssv16919698
Samples
Known GenesRAB3GAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441580
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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