A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713548



Internal ID137214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48200567..48222609hg38UCSC Ensembl
chr17:46277929..46299971hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3822043
hg1922043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532563
Supporting Variants
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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