A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703710



Internal ID21730031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16510979..16510979hg38UCSC Ensembl
chr12:16663913..16663913hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192347, nssv17229552
Samples
Known Genes
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)nsv5703710
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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