A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270263



Internal ID22136362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133783414..133803876hg38UCSC Ensembl
Outerchr3:133502258..133522720hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3820463
hg1920463
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198069
Supporting Variants
SamplesHG00513
Known GenesSRPRB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270263
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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