A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254711



Internal ID22271044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72749663..72766413hg38UCSC Ensembl
Outerchr11:72460708..72477458hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232205
Supporting Variants
SamplesNA19239
Known GenesARAP1, STARD10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254711
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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