A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277143



Internal ID22154148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170086996..170116104hg38UCSC Ensembl
Outerchr6:170402220..170431328hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381391
hg191391
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226087
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277143
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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