A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282761



Internal ID22199889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11271388..11288530hg38UCSC Ensembl
Outerchr10:11313351..11330493hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234492
Supporting Variants
SamplesHG00732
Known GenesCELF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282761
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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