A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209225



Internal ID22357336
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271238, nssv14271241, nssv14271243, nssv14271240, nssv14271237, nssv14271236, nssv14271239, nssv14271235, nssv14271242
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209225
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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