A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385774



Internal ID22300099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:27178957..27179107hg38UCSC Ensembl
chr9:27178955..27179105hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233951
Supporting Variants
SamplesNA19240
Known GenesTEK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385774
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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