A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987510



Internal ID21896853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206555565..206558240hg38UCSC Ensembl
chr2:207420289..207422964hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382676
hg192676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522543
Samples
Known GenesADAM23
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987510
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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