A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850987



Internal ID22034630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166333237..166333237hg38UCSC Ensembl
chr2:167189747..167189747hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243401
Supporting Variants
Samples
Known GenesSCN9A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850987
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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