A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265105



Internal ID22134782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:205326800..205352578hg38UCSC Ensembl
Outerchr2:206191524..206217302hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383328
hg193328
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220751
Supporting Variants
SamplesHG00513
Known GenesPARD3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265105
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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