A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712727



Internal ID21739048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29726426..29726426hg38UCSC Ensembl
chr12:29879359..29879359hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230039, nssv17192731
Samples
Known GenesTMTC1
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)nsv5712727
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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