A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244856



Internal ID22375974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:12485035..12497220hg38UCSC Ensembl
Outerchr18:12485034..12497219hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg386278
hg196278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261818, nssv14261819, nssv14261821, nssv14261820
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesSPIRE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244856
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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