A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708723



Internal ID21735044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109943171..109943171hg38UCSC Ensembl
chr12:110380976..110380976hg19UCSC Ensembl
Cytoband12q24.11
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 Variantsnssv17220499, nssv17193344
Samples
Known GenesGIT2
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)nsv5708723
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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