A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18008712



Internal ID20575753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39669659..39670154hg38UCSC Ensembl
chr13:40243796..40244291hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488576
Supporting Variants
Samples
Known GenesCOG6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18008712
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00053


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer