A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272207



Internal ID22132915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:94891377..94944610hg38UCSC Ensembl
Outerchr3:94610221..94663454hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg383742
hg193742
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223268
Supporting Variants
SamplesHG00513
Known GenesLINC00879
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272207
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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