A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982206



Internal ID21891549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181728754..181729097hg38UCSC Ensembl
chr1:181697890..181698233hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533527
Samples
Known GenesCACNA1E
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982206
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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