A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201732



Internal ID20768772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181539761..181556823hg38UCSC Ensembl
chr1:181508897..181525959hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3817063
hg1917063
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316627
Supporting Variants
Samples
Known GenesCACNA1E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201732
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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