A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723025



Internal ID21749346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56313909..56313909hg38UCSC Ensembl
chr8:57226468..57226468hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240536
Samples
Known GenesSDR16C5
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)nsv5723025
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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