A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533118



Internal ID309016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75250734..75251688hg38UCSC Ensembl
chr17:73246815..73247769hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38955
hg19955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714618
Samples
Known GenesGGA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533118
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