A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711544



Internal ID21737865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76788714..76788714hg38UCSC Ensembl
chr12:77182494..77182494hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192618
Samples
Known GenesZDHHC17
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)nsv5711544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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