A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921798



Internal ID15299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166042588..166291128hg38UCSC Ensembl
chr2:166899098..167147638hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38248541
hg19248541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443895
Supporting Variants
Samples
Known GenesSCN1A, SCN9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921798
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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