A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254697



Internal ID22271035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:57374133..57377983hg38UCSC Ensembl
Outerchr11:57141606..57145456hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238884
Supporting Variants
SamplesNA19239
Known GenesPRG3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254697
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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