A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266802



Internal ID22135296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:4592122..4610385hg38UCSC Ensembl
Outerchr2:4639712..4657975hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225034
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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