A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081283



Internal ID20648324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166133204..166134063hg38UCSC Ensembl
chr2:166989714..166990573hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342116
Supporting Variants
Samples
Known GenesSCN1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081283
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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