A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4734005



Internal ID20509937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44812914..44812981hg38UCSC Ensembl
chr5:44813016..44813083hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261609
Samples
Known GenesMRPS30
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4734005
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