A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197977



Internal ID20765017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80152174..80253296hg38UCSC Ensembl
chr18:77910057..78011179hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38101123
hg19101123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6533800
Supporting Variants
Samples
Known GenesPARD6G, PARD6G-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197977
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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