A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3289012



Internal ID22387432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167940316..167940546hg38UCSC Ensembl
chr6:168340996..168341226hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8227n152
Supporting Variantsnssv14435788
SamplesHG00514
Known GenesMLLT4
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)nsv3289012
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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