A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279000



Internal ID22288305
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229938
Supporting Variants
SamplesNA19240
Known GenesACOT13, TDP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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