A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710715



Internal ID134381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:786267..950187hg38UCSC Ensembl
chr17:689507..853427hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38163921
hg19163921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531727
Supporting Variants
Samples
Known GenesNXN, RNMTL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710715
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