A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711285



Internal ID134951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8734324..8734421hg38UCSC Ensembl
chr17:8637642..8637739hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525871
Supporting Variants
Samples
Known GenesCCDC42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711285
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