A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380406



Internal ID22438276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50251140..50260278hg38UCSC Ensembl
chr14:50717858..50726996hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg389139
hg199139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930654
Supporting Variants
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380406
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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