A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17192464



Internal ID21639973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45178808..45178808hg38UCSC Ensembl
chr12:45572591..45572591hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5699193
Supporting Variants
Samples
Known GenesPLEKHA8P1
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)nssv17192464
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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