A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197958



Internal ID20764998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79720214..79918939hg38UCSC Ensembl
chr18:77480214..77678939hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38198726
hg19198726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6533190
Supporting Variants
Samples
Known GenesCTDP1, KCNG2, PQLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197958
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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