A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215392



Internal ID20782432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94319885..94576968hg38UCSC Ensembl
chr4:95241036..95498119hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38257084
hg19257084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6393535
Supporting Variants
Samples
Known GenesHPGDS, PDLIM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215392
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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