A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703688



Internal ID21730009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27246974..27246974hg38UCSC Ensembl
chr16:27258295..27258295hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198991, nssv17218172
Samples
Known GenesNSMCE1
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)nsv5703688
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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