A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5632480



Internal ID21580785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18181562..18181562hg38UCSC Ensembl
chr10:18470491..18470491hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17069906
SamplesHG01114
Known GenesCACNB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5632480
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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