A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197571



Internal ID22347436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193406864..193437474hg38UCSC Ensembl
Outerchr3:193124653..193155263hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3830611
hg1930611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271297, nssv14271295, nssv14271296, nssv14271298
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesATP13A4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197571
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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