A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18056918



Internal ID20623959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20080591..20084194hg38UCSC Ensembl
chr1:20407084..20410687hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg383604
hg193604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323681
Supporting Variants
Samples
Known GenesPLA2G5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18056918
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00708


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