A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714571



Internal ID138237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74732779..74733315hg38UCSC Ensembl
chr17:72728918..72729454hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529474
Supporting Variants
Samples
Known GenesRAB37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.439276


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