A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18130786



Internal ID20697826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39383263..39383719hg38UCSC Ensembl
chr5:39383365..39383821hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6392449
Supporting Variants
Samples
Known GenesDAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18130786
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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