A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696468



Internal ID21722789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19372411..19372411hg38UCSC Ensembl
chr12:19525345..19525345hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192398, nssv17220523
Samples
Known GenesPLEKHA5
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)nsv5696468
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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