A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277036



Internal ID22260386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:108455547..108468860hg38UCSC Ensembl
Outerchr6:108776750..108790063hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg382110
hg192110
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222260
Supporting Variants
SamplesNA19238
Known GenesLACE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277036
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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