A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18171828



Internal ID20738868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94790201..94792000hg38UCSC Ensembl
chr8:95802429..95804228hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6431924
Supporting Variants
Samples
Known GenesDPY19L4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18171828
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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