A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17202032



Internal ID21649541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7880049..7880049hg38UCSC Ensembl
chr19:7944934..7944934hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701772
Supporting Variants
Samples
Known GenesLOC388499
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)nssv17202032
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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