A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696714



Internal ID120380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50287600..50288969hg38UCSC Ensembl
chr14:50754318..50755687hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381370
hg191370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496090
Supporting Variants
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696714
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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