A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255171



Internal ID22299240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36281230..36311115hg38UCSC Ensembl
Outerchr11:36302780..36332665hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381233
hg191233
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244926
Supporting Variants
SamplesNA19240
Known GenesCOMMD9, PRR5L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255171
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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