A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962657



Internal ID22737592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31613697..31748884hg38UCSC Ensembl
chr20:30201500..30336687hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38135188
hg19135188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395912
Samples
Known GenesBCL2L1, COX4I2, TPX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962657
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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