A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984347



Internal ID21893690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46240196..46242949hg38UCSC Ensembl
chr1:46705868..46708621hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382754
hg192754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532499
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984347
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer