A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254391



Internal ID22199786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:104037097..104069726hg38UCSC Ensembl
Outerchr11:103907825..103940454hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3832630
hg1932630
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222308
Supporting Variants
SamplesHG00732
Known GenesDDI1, PDGFD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254391
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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