A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211823



Internal ID20778863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25791862..25796730hg38UCSC Ensembl
chr4:25793484..25798352hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg384869
hg194869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6367061
Supporting Variants
Samples
Known GenesSEL1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211823
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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