A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6038029



Internal ID21947372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47488189..47489602hg38UCSC Ensembl
chr17:45565555..45566968hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381414
hg191414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17628261
Samples
Known GenesMRPL45P2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6038029
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