A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275488



Internal ID22262656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28173230..28180537hg38UCSC Ensembl
Outerchr6:28141008..28148315hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg382061
hg192061
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225641
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275488
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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