A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676202



Internal ID21702523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190479524..190479524hg38UCSC Ensembl
chr2:191344250..191344250hg19UCSC Ensembl
Cytoband2q32.2
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 Variantsnssv17209392, nssv17230944
Samples
Known GenesMFSD6
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)nsv5676202
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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