A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6487482



Internal ID21145035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99348389..99352848hg38UCSC Ensembl
chr13:100000643..100005102hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg384460
hg194460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18016412
Samples
Known GenesFKSG29, MIR548AN, UBAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6487482
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