A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280622



Internal ID22305011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:76442545..76458656hg38UCSC Ensembl
Outerchr8:77354780..77370891hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232574
Supporting Variants
SamplesNA19240
Known GenesLINC01111
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280622
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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