A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714168



Internal ID137834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67565311..67565506hg38UCSC Ensembl
chr17:65561427..65561622hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520475
Supporting Variants
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714168
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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