A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366665



Internal ID22592334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181506798..181507121hg38UCSC Ensembl
chr1:181475934..181476257hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872833
Supporting Variants
Samples
Known GenesCACNA1E
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366665
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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