A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277047



Internal ID22260382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110953953..110960345hg38UCSC Ensembl
Outerchr6:111275156..111281548hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg382698
hg192698
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217474
Supporting Variants
SamplesNA19238
Known GenesGTF3C6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277047
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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