A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316627



Internal ID20849707
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 StatusM
Merged Variants
Supporting Variantsnssv18201732
Samples
Known GenesCACNA1E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316627
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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