A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986049



Internal ID21895392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135645133..135645209hg38UCSC Ensembl
chr2:136402703..136402779hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17523087
Samples
Known GenesR3HDM1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986049
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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