A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255069



Internal ID22117460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68643905..68678944hg38UCSC Ensembl
Outerchr11:68411373..68446412hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg382191
hg192191
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236307
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255069
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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