A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18120214



Internal ID20687254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75622587..75623982hg38UCSC Ensembl
chr4:76547771..76549166hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381396
hg191396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6378554
Supporting Variants
Samples
Known GenesCDKL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18120214
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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