A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3299943



Internal ID22389036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58542196..58542340hg38UCSC Ensembl
chr20:57117252..57117396hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408490, nssv14456206, nssv14433929
SamplesNA19240, HG00733, HG00514
Known GenesAPCDD1L-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3299943
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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