A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266100



Internal ID22203467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47757439..47779727hg38UCSC Ensembl
Outerchr2:47984578..48006866hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225536
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266100
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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