A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695638



Internal ID21721959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72026660..72026660hg38UCSC Ensembl
chr11:71737706..71737706hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230000, nssv17191230
Samples
Known GenesNUMA1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5695638
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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