A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18012505



Internal ID20579545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69928001..69931700hg38UCSC Ensembl
chr13:70502133..70505832hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487438
Supporting Variants
Samples
Known GenesKLHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18012505
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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