A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206233



Internal ID22354807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194397265..194404278hg38UCSC Ensembl
Outerchr3:194117994..194125007hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387014
hg197014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271301, nssv14271300, nssv14271299
SamplesNA19238, HG00732, NA19240
Known GenesATP13A3, GP5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206233
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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