A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276954



Internal ID22191976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:69561797..69588851hg38UCSC Ensembl
Outerchr6:70271689..70298743hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg382410
hg192410
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214421
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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