A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255694



Internal ID22117692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:35221491..35222401hg38UCSC Ensembl
Outerchr11:35243038..35243948hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3815918
hg1915918
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244748
Supporting Variants
SamplesHG00512
Known GenesCD44
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255694
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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