A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3180076



Internal ID22335896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21305483..21308165hg38UCSC Ensembl
chr20:21286121..21288803hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382683
hg192683
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14433234, nssv14456335, nssv14406642
SamplesNA19240, HG00733, HG00514
Known GenesXRN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3180076
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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