A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18039886



Internal ID20606926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:30999176..30999544hg38UCSC Ensembl
chr18:28579142..28579510hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519375
Supporting Variants
Samples
Known GenesDSC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18039886
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00217


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