A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202227



Internal ID22351417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:198088867..198139171hg38UCSC Ensembl
Outerchr3:197815738..197866042hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3850305
hg1950305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271641, nssv14271640
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202227
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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