A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17853394



Internal ID22037037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:198570275..198570275hg38UCSC Ensembl
chr2:199434999..199434999hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253220
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17853394
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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