A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714153



Internal ID137819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67388471..67391681hg38UCSC Ensembl
chr17:65384587..65387797hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383211
hg193211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524793
Supporting Variants
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714153
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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