A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277221



Internal ID22226637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170108011..170116383hg38UCSC Ensembl
Outerchr6:170423235..170431607hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381017
hg191017
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215959
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277221
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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