A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282787



Internal ID22187631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12043122..12047904hg38UCSC Ensembl
Outerchr10:12085121..12089903hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381052
hg191052
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244127
Supporting Variants
SamplesHG00731
Known GenesUPF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282787
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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