A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18164283



Internal ID20731323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113372912..113377620hg38UCSC Ensembl
chr8:114385141..114389849hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg384709
hg194709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6432188
Supporting Variants
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18164283
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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