A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17182989



Internal ID21630498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107072730..107072730hg38UCSC Ensembl
chr7:106713175..106713175hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682734
Supporting Variants
Samples
Known GenesPRKAR2B
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)nssv17182989
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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