A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730026



Internal ID21756347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76966516..76966516hg38UCSC Ensembl
chr4:77887669..77887669hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238059
Samples
Known GenesSEPT11
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)nsv5730026
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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