A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216144



Internal ID22362240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9187907..9288394hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38100488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5428n152
Supporting Variantsnssv14432765
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216144
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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