A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288643



Internal ID22387058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123855963..123856016hg38UCSC Ensembl
chr8:124868203..124868256hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14439159
SamplesHG00733
Known GenesFER1L6
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)nsv3288643
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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