A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229938



Internal ID22371625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24646992..24690694hg38UCSC Ensembl
Outerchr6:24647220..24690922hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278998, nssv14278999, nssv14279000
SamplesNA19240, HG00733, HG00513
Known GenesACOT13, TDP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229938
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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