A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18009438



Internal ID20576478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49451779..49453174hg38UCSC Ensembl
chr13:50025915..50027310hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381396
hg191396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482072
Supporting Variants
Samples
Known GenesSETDB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18009438
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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