A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280663



Internal ID22155349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:130885448..130900807hg38UCSC Ensembl
Outerchr8:131897694..131913053hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249129
Supporting Variants
SamplesHG00514
Known GenesADCY8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280663
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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