A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216909



Internal ID22362749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2675024..2703902hg38UCSC Ensembl
Outerchr6:2675258..2704136hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278336, nssv14278337, nssv14278338
SamplesHG00512, NA19239, NA19240
Known GenesMYLK4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216909
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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