A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178665



Internal ID20745705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74078517..74082458hg38UCSC Ensembl
chr14:74545220..74549161hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383942
hg193942
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494552
Supporting Variants
Samples
Known GenesALDH6A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178665
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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