A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719722



Internal ID21746043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40355519..40355519hg38UCSC Ensembl
chr15:40647720..40647720hg19UCSC 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 Variantsnssv17235798
Samples
Known GenesPHGR1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5719722
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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