A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459190



Internal ID22252926
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 StatusS
Merged Variantsnsv3530649
Supporting Variants
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)nssv14459190
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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