A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6058912



Internal ID21968145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42313780..42369144hg38UCSC Ensembl
chr20:40942420..40997784hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3855365
hg1955365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17622327
Samples
Known GenesPTPRT
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6058912
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