A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279370



Internal ID22118723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28697381..28766123hg38UCSC Ensembl
Outerchr6:28665158..28733900hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226061
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279370
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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