A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686657



Internal ID21712978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:8030022..8030022hg38UCSC Ensembl
chr7:8069652..8069652hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181481
Samples
Known GenesGLCCI1
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)nsv5686657
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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