A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714450



Internal ID21740771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47868433..47868433hg38UCSC Ensembl
chr8:48780994..48780994hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237641
Samples
Known GenesPRKDC
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)nsv5714450
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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