A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711677



Internal ID135343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15237237..15237288hg38UCSC Ensembl
chr17:15140554..15140605hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426820
Supporting Variants
Samples
Known GenesPMP22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711677
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