A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540048



Internal ID22409199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44181748..44181748hg38UCSC Ensembl
chr6:44149485..44149485hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426838
SamplesHG00514
Known GenesCAPN11
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)nsv3540048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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