A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189882



Internal ID20756922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110488718..110719249hg38UCSC Ensembl
chr13:111141065..111371596hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38230532
hg19230532
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487665
Supporting Variants
Samples
Known GenesCARKD, CARS2, COL4A2, COL4A2-AS1, ING1, RAB20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189882
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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