A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984119



Internal ID21893462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39504136..39504585hg38UCSC Ensembl
chr1:39969808..39970257hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518003
Samples
Known GenesBMP8A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984119
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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