A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598124



Internal ID21546746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45969502..45969604hg38UCSC Ensembl
chr17:44046868..44046970hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17085763
SamplesNA24385
Known GenesMAPT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598124
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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