A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278355



Internal ID22277928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:23611459..23626291hg38UCSC Ensembl
Outerchr6:23611687..23626519hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226961
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278355
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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