A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724706



Internal ID148372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50401188..50402264hg38UCSC Ensembl
chr17:48478549..48479625hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381077
hg191077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523471
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724706
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