A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459533



Internal ID21117086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39506211..39629581hg38UCSC Ensembl
chr12:39900013..40023383hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38123371
hg19123371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000334
Samples
Known GenesABCD2, C12orf40
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459533
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