A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081301



Internal ID20648342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166327105..166327805hg38UCSC Ensembl
chr2:167183615..167184315hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351936
Supporting Variants
Samples
Known GenesSCN9A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081301
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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