A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17192383



Internal ID21639892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18598700..18598700hg38UCSC Ensembl
chr12:18751634..18751634hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696971
Supporting Variants
Samples
Known GenesPIK3C2G
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)nssv17192383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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