A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278953



Internal ID22270448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142128909..142147211hg38UCSC Ensembl
Outerchr6:142450046..142468348hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg386088
hg196088
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223353
Supporting Variants
SamplesNA19239
Known GenesVTA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278953
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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