A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277736



Internal ID22198890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166408049..166445164hg38UCSC Ensembl
Outerchr6:166821537..166858652hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229419
Supporting Variants
SamplesHG00732
Known GenesRPS6KA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277736
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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