A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593549



Internal ID21542138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103117193..103117480hg38UCSC Ensembl
chr14:103583530..103583817hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17094540
SamplesNA19650
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5593549
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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