A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252732



Internal ID22208893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:28795363..28818825hg38UCSC Ensembl
Outerchr10:29084292..29107754hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237740
Supporting Variants
SamplesHG00732
Known GenesLINC00837
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252732
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer