A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18019792



Internal ID20586832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56888507..56888938hg38UCSC Ensembl
chr14:57355225..57355656hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483663
Supporting Variants
Samples
Known GenesOTX2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18019792
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00122


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