A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612489



Internal ID21560794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21957328..21957328hg38UCSC Ensembl
chr4:21958951..21958951hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17134402
SamplesHG01505
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612489
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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