A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237555



Internal ID22373903
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14339658, nssv14339652, nssv14339654, nssv14339657, nssv14339656, nssv14339651, nssv14339653, nssv14339650, nssv14339655
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
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)nsv3237555
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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