A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519164



Internal ID295520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61220096..61229862hg38UCSC Ensembl
chr17:59297457..59307223hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg389767
hg199767
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724945
Samples
Known GenesBCAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519164
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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