A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193320



Internal ID21640829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102902442..102902442hg38UCSC Ensembl
chr12:103296220..103296220hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711811
Supporting Variants
Samples
Known GenesPAH
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)nssv17193320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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