A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216362



Internal ID20783402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75388697..75807400hg38UCSC Ensembl
chr5:74684522..75103225hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38418704
hg19418704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406102
Supporting Variants
Samples
Known GenesANKDD1B, COL4A3BP, POC5, POLK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216362
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