A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474841



Internal ID21132394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24384593..24765754hg38UCSC Ensembl
chr12:24537527..24918688hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38381162
hg19381162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193577
Samples
Known GenesLINC00477, SOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474841
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