A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277142



Internal ID22215213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166286717..166292719hg38UCSC Ensembl
Outerchr6:166700205..166706207hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg386278
hg196278
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220699
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277142
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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