A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3289102



Internal ID22387524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54604935..54605101hg38UCSC Ensembl
chr6:54469733..54469899hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412297
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)nsv3289102
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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