A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182012



Internal ID20749052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50506653..51212480hg38UCSC Ensembl
chr14:50973371..51679198hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38705828
hg19705828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483251
Supporting Variants
Samples
Known GenesABHD12B, ATL1, MAP4K5, NIN, PYGL, SAV1, TRIM9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182012
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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