A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521477



Internal ID297772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67403913..67408401hg38UCSC Ensembl
chr17:65400029..65404517hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg384489
hg194489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714155
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521477
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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