A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300875



Internal ID22257963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14980626..14980626hg38UCSC Ensembl
chr21:16352947..16352947hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561897
Supporting Variants
SamplesNA19238
Known GenesNRIP1
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)nssv14300875
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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