A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284375



Internal ID22382738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166396237..166396320hg38UCSC Ensembl
chr6:166809725..166809808hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380220
SamplesNA19240
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)nsv3284375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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