A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708170



Internal ID21734491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53428202..53428202hg38UCSC Ensembl
chr12:53821986..53821986hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220437, nssv17192248
Samples
Known GenesAMHR2
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)nsv5708170
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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