A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516478



Internal ID292934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67391566..67405691hg38UCSC Ensembl
chr17:65387682..65401807hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3814126
hg1914126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714154
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516478
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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