A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254985



Internal ID22198454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74997625..75007368hg38UCSC Ensembl
Outerchr11:74708670..74718413hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382018
hg192018
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236025
Supporting Variants
SamplesHG00732
Known GenesNEU3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254985
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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