A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989697



Internal ID21899040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48469451..48469517hg38UCSC Ensembl
chr2:48696590..48696656hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536417
Samples
Known GenesPPP1R21
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989697
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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