A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709871



Internal ID21736192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98974589..98974589hg38UCSC Ensembl
chr12:99368367..99368367hg19UCSC Ensembl
Cytoband12q23.1
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 Variantsnssv17193138, nssv17230525
Samples
Known GenesANKS1B
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)nsv5709871
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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