A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277198



Internal ID22198783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:49089756..49120335hg38UCSC Ensembl
Outerchr6:49057392..49087971hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg385255
hg195255
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228947
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277198
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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