A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620272



Internal ID21568577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88743864..88743864hg38UCSC Ensembl
chr1:89209547..89209547hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067289
SamplesHG02818
Known GenesPKN2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620272
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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