A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214651



Internal ID20781692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174282470..174338910hg38UCSC Ensembl
chr4:175203621..175260061hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3856441
hg1956441
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6384815
Supporting Variants
Samples
Known GenesCEP44, FBXO8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214651
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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