A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612397



Internal ID21560702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95086482..95086482hg38UCSC Ensembl
chr1:95552038..95552038hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067168
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612397
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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