A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3271678



Internal ID22377565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115474389..115474735hg38UCSC Ensembl
chr20:5943011..5943320hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38347
hg19310
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10246n152
Supporting Variantsnssv14412633, nssv14383181, nssv14440006
SamplesNA19240, HG00733, HG00514
Known GenesMCM8
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)nsv3271678
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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