A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373223



Internal ID22598892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50281955..50288569hg38UCSC Ensembl
chr14:50748673..50755287hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg386615
hg196615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5947105
Supporting Variants
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373223
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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