A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081313



Internal ID20648354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166434901..166435900hg38UCSC Ensembl
chr2:167291411..167292410hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350255
Supporting Variants
Samples
Known GenesSCN7A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081313
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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