A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704008



Internal ID21730329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131019380..131019380hg38UCSC Ensembl
chr7:130704139..130704139hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184024
Samples
Known GenesLINC-PINT
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)nsv5704008
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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