A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5995374



Internal ID21904717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140009690..140014604hg38UCSC Ensembl
chr4:140930844..140935758hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg384915
hg194915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17543462
Samples
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5995374
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