A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271241



Internal ID22262318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4011410..4043211hg38UCSC Ensembl
Outerchr3:4053094..4084895hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3831802
hg1931802
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209225
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271241
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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