A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17069906



Internal ID21449579
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 StatusS
Merged Variantsnsv5632480
Supporting Variants
SamplesHG01114
Known GenesCACNB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17069906
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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