A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283477



Internal ID22381824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139872884..139872937hg38UCSC Ensembl
chr8:140885128..140885181hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381520
SamplesNA19240
Known GenesTRAPPC9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3283477
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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