A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255104



Internal ID22188181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69109116..69188456hg38UCSC Ensembl
Outerchr11:68876584..68955924hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg383584
hg193584
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233162
Supporting Variants
SamplesHG00731
Known GenesLOC338694
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255104
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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