A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990248



Internal ID21899591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70249626..70249683hg38UCSC Ensembl
chr2:70476758..70476815hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537210
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990248
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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