A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598630



Internal ID21547257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71223240..71223546hg38UCSC Ensembl
chr14:71689957..71690263hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17094284
SamplesNA12878
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598630
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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