A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557547



Internal ID330643
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 StatusM
Merged Variants
Supporting Variantsnssv17700110
Samples
Known GenesPHGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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