A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279028



Internal ID22119109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166004121..166032981hg38UCSC Ensembl
Outerchr6:166417609..166446469hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381495
hg191495
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215012
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279028
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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