A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988837



Internal ID21898180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27783980..27784255hg38UCSC Ensembl
chr2:28006847..28007122hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522370
Samples
Known GenesRBKS
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988837
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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