A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18008743



Internal ID20575784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48374178..48374512hg38UCSC Ensembl
chr13:48948314..48948648hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476845
Supporting Variants
Samples
Known GenesRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18008743
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003


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