A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054634



Internal ID20621674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181506798..181507122hg38UCSC Ensembl
chr1:181475934..181476258hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319826
Supporting Variants
Samples
Known GenesCACNA1E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054634
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00152


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