A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277741



Internal ID22198891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166578804..166594695hg38UCSC Ensembl
Outerchr6:166992292..167008183hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213786
Supporting Variants
SamplesHG00732
Known GenesRPS6KA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277741
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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