A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691946



Internal ID21718267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35050519..35050519hg38UCSC Ensembl
chr6:35018296..35018296hg19UCSC Ensembl
Cytoband6p21.31
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 Variantsnssv17178800
Samples
Known GenesANKS1A
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)nsv5691946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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