A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742597



Internal ID20518581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1653320..1716919hg38UCSC Ensembl
chr1:1584766..1648358hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3863600
hg1963593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16270034
Samples
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742597
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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