A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17536742



Internal ID21861097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181734733..181734876hg38UCSC Ensembl
chr1:181703869..181704012hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5981790
Supporting Variants
Samples
Known GenesCACNA1E
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17536742
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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