A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14306776



Internal ID22121977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212592506..212592506hg38UCSC Ensembl
chr1:212765848..212765848hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561927
Supporting Variants
SamplesHG00512
Known GenesATF3
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)nssv14306776
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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