A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276536



Internal ID22262740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43965201..43975667hg38UCSC Ensembl
Outerchr6:43932938..43943404hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381034
hg191034
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225412
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276536
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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