A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715689



Internal ID21742010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:37383317..37383317hg38UCSC Ensembl
chrX:37242570..37242570hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247772, nssv17213449
Samples
Known GenesPRRG1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5715689
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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