A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254489



Internal ID22144483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106913661..106941990hg38UCSC Ensembl
Outerchr11:106784387..106812716hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3828330
hg1928330
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213383
Supporting Variants
SamplesHG00514
Known GenesGUCY1A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254489
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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