A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620050



Internal ID21568355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:651243..651243hg38UCSC Ensembl
chr4:645032..645032hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17138387
SamplesNA18534
Known GenesPDE6B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620050
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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