A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255749



Internal ID22131508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:35230091..35245792hg38UCSC Ensembl
Outerchr11:35251638..35267339hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381157
hg191157
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243572
Supporting Variants
SamplesHG00513
Known GenesCD44
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255749
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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