A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272511



Internal ID22116855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:98183767..98233851hg38UCSC Ensembl
Outerchr3:97902611..97952695hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226476
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272511
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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