A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081284



Internal ID20648325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166137349..166139276hg38UCSC Ensembl
chr2:166993859..166995786hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381928
hg191928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337945
Supporting Variants
Samples
Known GenesSCN1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081284
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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