A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714745



Internal ID21741066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3972756..3972756hg38UCSC Ensembl
chr11:3993986..3993986hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238877, nssv17248061
Samples
Known GenesSTIM1
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)nsv5714745
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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