A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539342



Internal ID20912640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44246801..44248400hg38UCSC Ensembl
chr20:42875441..42877040hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18067814
Samples
Known GenesGDAP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539342
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