A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186385



Internal ID20753425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31388130..31472251hg38UCSC Ensembl
chr18:28968093..29052214hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3884122
hg1984122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6532854
Supporting Variants
Samples
Known GenesDSG3, DSG4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186385
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00046


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