A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285832



Internal ID22384213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166221884..166221986hg38UCSC Ensembl
chr6:166635372..166635474hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455062
SamplesHG00733
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)nsv3285832
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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