A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690707



Internal ID21717028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11575234..11575234hg38UCSC Ensembl
chr7:11614861..11614861hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223983
Samples
Known GenesTHSD7A
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)nsv5690707
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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