A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183184



Internal ID20750224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:29648720..31204673hg38UCSC Ensembl
chr18:27228685..28784636hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381555954
hg191555952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534270
Supporting Variants
Samples
Known GenesDSC1, DSC2, DSC3, MIR302F
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183184
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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