A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16291488



Internal ID20500706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31000782..31001155hg38UCSC Ensembl
chr18:28580748..28581121hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4734720
Supporting Variants
Samples
Known GenesDSC3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16291488
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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