A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255111



Internal ID22255130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69215204..69217057hg38UCSC Ensembl
Outerchr11:68982671..68984524hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236858
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255111
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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