A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713599



Internal ID137265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51324966..51328982hg38UCSC Ensembl
chr17:49402327..49406343hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg384017
hg194017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533891
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713599
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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