A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255164



Internal ID22188283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:15345022..15369984hg38UCSC Ensembl
Outerchr11:15366568..15391530hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241686
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255164
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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