A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559909



Internal ID332928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48283471..48283522hg38UCSC Ensembl
chr15:48575668..48575719hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38415
hg19415
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699814
Samples
Known GenesSLC12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559909
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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