A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277066



Internal ID22253928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:121814016..121840604hg38UCSC Ensembl
Outerchr6:122135162..122161750hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381513
hg191513
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229333
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277066
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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