A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594548



Internal ID21543147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8395374..8395478hg38UCSC Ensembl
chr9:8395374..8395478hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17163069
SamplesHG02011
Known GenesPTPRD
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594548
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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