A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244127



Internal ID22375774
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282788, nssv14282787
SamplesNA19238, HG00731
Known GenesUPF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244127
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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