A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482072



Internal ID21139625
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 StatusM
Merged Variants
Supporting Variantsnssv18009438
Samples
Known GenesSETDB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482072
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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