A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615522



Internal ID21563827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48879474..48879474hg38UCSC Ensembl
chr1:49345146..49345146hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065569
SamplesNA19238
Known GenesAGBL4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615522
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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