A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530649



Internal ID22400022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167997437..167997437hg38UCSC Ensembl
chr6:168398117..168398117hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459190
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)nsv3530649
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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