A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730056



Internal ID153722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201521095..201521146hg38UCSC Ensembl
chr2:202385818..202385869hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403158
Supporting Variants
Samples
Known GenesALS2CR11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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