A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700110



Internal ID123776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40355519..40355570hg38UCSC Ensembl
chr15:40647720..40647771hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38716
hg19716
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557547
Supporting Variants
Samples
Known GenesPHGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700110
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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