A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714169



Internal ID137835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67565517..67565808hg38UCSC Ensembl
chr17:65561633..65561924hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516462
Supporting Variants
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714169
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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