A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198768



Internal ID22348455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:58546063..58559072hg38UCSC Ensembl
Outerchr3:58531790..58544799hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3813010
hg1913010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270422, nssv14270427, nssv14270426, nssv14270425, nssv14270428, nssv14270423, nssv14270424
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198768
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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