A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529461



Internal ID305477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78217642..78221552hg38UCSC Ensembl
chr17:76213723..76217633hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383911
hg193911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714838
Samples
Known GenesBIRC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529461
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