A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438148



Internal ID22181262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54059299..54059613hg38UCSC Ensembl
chr8:54971859..54972173hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3171198
Supporting Variants
SamplesHG00514
Known GenesLYPLA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14438148
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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