A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195836



Internal ID22345950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:86262310..86277946hg38UCSC Ensembl
Outerchr1:86727993..86743629hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3815637
hg1915637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262538, nssv14262537, nssv14262542, nssv14262535, nssv14262539, nssv14262536, nssv14262540, nssv14262541
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195836
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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