A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851080



Internal ID22034723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201754754..201754754hg38UCSC Ensembl
chr2:202619477..202619477hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253248
Supporting Variants
Samples
Known GenesALS2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851080
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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