A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279832



Internal ID22278021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48144185..48180651hg38UCSC Ensembl
Outerchr8:49056745..49093211hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250282
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279832
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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