A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930654



Internal ID22705924
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 StatusM
Merged Variants
Supporting Variantsnssv17380406
Samples
Known GenesL2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930654
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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