A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595167



Internal ID21543769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50299807..50299880hg38UCSC Ensembl
chr14:50766525..50766598hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093197
SamplesHG00513
Known GenesL2HGDH
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595167
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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