A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288431



Internal ID22386844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146691411..146691461hg38UCSC Ensembl
chr6:147012547..147012597hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14382096
SamplesNA19240
Known GenesADGB
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)nsv3288431
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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