A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14339655



Internal ID22231031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27251809..27252386hg38UCSC Ensembl
chr8:27109326..27109903hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV line1 deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237555
Supporting Variants
SamplesHG00733
Known GenesSTMN4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a L1PA2 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14339655
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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