A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3289088



Internal ID22387510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26343599..26351344hg38UCSC Ensembl
chr6:26343827..26351572hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg387746
hg197746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7789n152
Supporting Variantsnssv14411097
SamplesNA19240
Known Genes
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)nsv3289088
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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