A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17192091



Internal ID21639600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4510905..4510905hg38UCSC Ensembl
chr12:4620071..4620071hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703573
Supporting Variants
Samples
Known GenesC12orf4
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)nssv17192091
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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