A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204940



Internal ID22353714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:114959478..115013069hg38UCSC Ensembl
Outerchr5:114295175..114348766hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3853592
hg1953592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272643, nssv14272642, nssv14272641, nssv14272644
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204940
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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