A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484710



Internal ID21142263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43512028..43930110hg38UCSC Ensembl
chr13:44086164..44504246hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38418083
hg19418083
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179580
Samples
Known GenesCCDC122, ENOX1, LACC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484710
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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