A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520110



Internal ID296449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39189238..39189786hg38UCSC Ensembl
chr17:37345491..37346039hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713022
Samples
Known GenesCACNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520110
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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