A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278321



Internal ID22154545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170489983..170505614hg38UCSC Ensembl
Outerchr6:170799071..170814702hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381706
hg191706
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228211
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278321
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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