A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518698



Internal ID295069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67657474..67657681hg38UCSC Ensembl
chr17:65653590..65653797hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714175
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518698
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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