A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15704848



Internal ID21377124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20070849..20070928hg38UCSC Ensembl
chr1:20397342..20397421hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4390886
Supporting Variants
Samples
Known GenesPLA2G5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15704848
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0114943


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