A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019148



Internal ID20586188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51521606..51522113hg38UCSC Ensembl
chr14:51988324..51988831hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6486018
Supporting Variants
Samples
Known GenesFRMD6, FRMD6-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019148
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00075


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