A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423216



Internal ID202238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47470400..47470400hg38UCSC Ensembl
chr15:47762597..47762597hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701209
Samples
Known GenesSEMA6D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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