A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255712



Internal ID22117716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:79115804..79151224hg38UCSC Ensembl
Outerchr11:78826849..78862269hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236112
Supporting Variants
SamplesHG00512
Known GenesTENM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255712
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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