A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319826



Internal ID20852923
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 StatusM
Merged Variants
Supporting Variantsnssv18054634
Samples
Known GenesCACNA1E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319826
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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