A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253585



Internal ID22199512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93134902..93180146hg38UCSC Ensembl
Outerchr11:92868068..92913312hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3845245
hg1945245
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222671
Supporting Variants
SamplesHG00732
Known GenesSLC36A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253585
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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