A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6005378



Internal ID21914721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:511331..511383hg38UCSC Ensembl
chr7:550968..551020hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17565041
Samples
Known GenesPDGFA
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6005378
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