A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220449



Internal ID21667958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56671600..56671600hg38UCSC Ensembl
chr1:57137273..57137273hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685349
Supporting Variants
Samples
Known GenesPRKAA2
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)nssv17220449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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