A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3276283



Internal ID22377798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36001372..36001498hg38UCSC Ensembl
chr20:34589294..34589420hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407841
SamplesNA19240
Known GenesCNBD2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3276283
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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