A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718122



Internal ID21744443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:94281221..94281221hg38UCSC Ensembl
chr10:96040978..96040978hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239840
Samples
Known GenesPLCE1, PLCE1-AS1
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)nsv5718122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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