A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3294002



Internal ID22388206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45134162..45134284hg38UCSC Ensembl
chr21:46554077..46554199hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459029
SamplesHG00733
Known GenesADARB1
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)nsv3294002
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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