A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476049



Internal ID21133602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48001799..48005315hg38UCSC Ensembl
chr13:48575935..48579451hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383517
hg193517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009265
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476049
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