A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280549



Internal ID22278087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66767606..66785839hg38UCSC Ensembl
Outerchr8:67679841..67698074hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249600
Supporting Variants
SamplesNA19239
Known GenesC8orf44-SGK3, PTTG3P, SGK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280549
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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