A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526371



Internal ID302502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20973909..20975606hg38UCSC Ensembl
chr16:20985231..20986928hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381698
hg191698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704758
Samples
Known GenesDNAH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526371
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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