A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281011



Internal ID22199518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72106457..72121967hg38UCSC Ensembl
Outerchr8:73018692..73034202hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236984
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281011
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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