A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390062



Internal ID22196940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94877145..94877145hg38UCSC Ensembl
chr1:95342701..95342701hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562000
Supporting Variants
SamplesHG00731
Known GenesSLC44A3
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)nssv14390062
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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