A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6098325



Internal ID22007558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50582231..50582231hg38UCSC Ensembl
chr17:48659592..48659592hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17635742
Samples
Known GenesCACNA1G
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6098325
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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