A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181024



Internal ID22336362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94950281..94950591hg38UCSC Ensembl
chr12:95344057..95344367hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1954n152
Supporting Variantsnssv14396899, nssv14422934
SamplesNA19240, HG00514
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)nsv3181024
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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