A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606288



Internal ID21554593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42917661..42917661hg38UCSC Ensembl
chr1:43383332..43383332hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382607
hg192607
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065347
SamplesNA19983
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606288
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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