A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254939



Internal ID22144548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119630786..119649160hg38UCSC Ensembl
Outerchr11:119501497..119519870hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381374
hg191374
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246690
Supporting Variants
SamplesHG00514
Known GenesPVRL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254939
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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