A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212383



Internal ID20779423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76112224..76192203hg38UCSC Ensembl
chr4:77033377..77113356hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3879980
hg1979980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6391489
Supporting Variants
Samples
Known GenesART3, NUP54, SCARB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212383
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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