A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592584



Internal ID21541166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102045390..102045456hg38UCSC Ensembl
chr14:102511727..102511793hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17099306
SamplesNA12329
Known GenesDYNC1H1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5592584
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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