A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466050



Internal ID22227585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8026915..8027224hg38UCSC Ensembl
chr5:8027028..8027337hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170849
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14466050
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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