A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254725



Internal ID22117346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93930292..93955448hg38UCSC Ensembl
Outerchr11:93663458..93688614hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236775
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254725
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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