A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306754



Internal ID22232873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42787595..42787595hg38UCSC Ensembl
chr3:42829087..42829087hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563286
Supporting Variants
SamplesHG00733
Known GenesHIGD1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14306754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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