A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283833



Internal ID22382187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122591695..122591767hg38UCSC Ensembl
chr8:123603934..123604006hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14382773
SamplesNA19240
Known Genes
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)nsv3283833
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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