A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5599667



Internal ID21548303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48294647..48294954hg38UCSC Ensembl
chr14:48763850..48764157hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17094318
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5599667
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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