A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199121



Internal ID22348751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:158554913..158636046hg38UCSC Ensembl
Outerchr3:158272702..158353835hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg3881134
hg1981134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270870, nssv14270871, nssv14270868, nssv14270867, nssv14270869
SamplesHG00512, NA19238, HG00732, HG00733, HG00513
Known GenesLOC100996447, MLF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199121
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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