A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254754



Internal ID22117358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131678513..131684047hg38UCSC Ensembl
Outerchr11:131548407..131553941hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381406
hg191406
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242357
Supporting Variants
SamplesHG00512
Known GenesNTM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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