A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514005



Internal ID290509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73288544..73308036hg38UCSC Ensembl
chr17:71284683..71304175hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3819493
hg1919493
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714487
Samples
Known GenesCDC42EP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514005
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