A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17701212



Internal ID124878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47537696..47537747hg38UCSC Ensembl
chr15:47829893..47829944hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418348
Supporting Variants
Samples
Known GenesSEMA6D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17701212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002966


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