A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17117146



Internal ID21410713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58414005..58414131hg38UCSC Ensembl
chr20:56989061..56989187hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5588299
Supporting Variants
SamplesHG00513
Known GenesVAPB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17117146
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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