A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197613



Internal ID20764653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68713201..68718500hg38UCSC Ensembl
chr18:66380438..66385737hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6528682
Supporting Variants
Samples
Known GenesCCDC102B, TMX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197613
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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