A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253295



Internal ID22199417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:21576703..21674738hg38UCSC Ensembl
Outerchr11:21598249..21696284hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3898036
hg1998036
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222475
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253295
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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