A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5585247



Internal ID21533793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67657474..67657680hg38UCSC Ensembl
chr17:65653590..65653796hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097383
SamplesHG03371
Known GenesPITPNC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5585247
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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