A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246178



Internal ID22376345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43168951..43193852hg38UCSC Ensembl
Outerchr10:43664399..43689300hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253507
SamplesHG00732
Known GenesCSGALNACT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246178
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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