A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231432



Internal ID22372229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1159892..1203281hg38UCSC Ensembl
Outerchr19:1159891..1203280hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382614
hg192614
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262989, nssv14262988, nssv14262986, nssv14262985, nssv14262990, nssv14262987
SamplesNA19238, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesSBNO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231432
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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