A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279162



Internal ID22258880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6671342..6708854hg38UCSC Ensembl
Outerchr8:6528863..6566375hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381646
hg191646
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214517
Supporting Variants
SamplesNA19238
Known GenesAGPAT5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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