A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17229663



Internal ID21677172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:7288753..7288753hg38UCSC Ensembl
chr3:7330440..7330440hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676786
Supporting Variants
Samples
Known GenesGRM7
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)nssv17229663
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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