A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987497



Internal ID21896840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204563220..204563273hg38UCSC Ensembl
chr2:205427943..205427996hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533861
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987497
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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