A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704278



Internal ID21730599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138741623..138741623hg38UCSC Ensembl
chr7:138426368..138426368hg19UCSC Ensembl
Cytoband7q34
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 Variantsnssv17183778
Samples
Known GenesATP6V0A4
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)nsv5704278
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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