A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183759



Internal ID20750799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24502001..24566500hg38UCSC Ensembl
chr13:25076139..25140638hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3864500
hg1964500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491960
Supporting Variants
Samples
Known GenesPARP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183759
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00046


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