A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984121



Internal ID21893464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39776350..39778283hg38UCSC Ensembl
chr1:40242022..40243955hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381934
hg191934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526483
Samples
Known GenesBMP8B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984121
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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