A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203089



Internal ID22352158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:136291767..136315317hg38UCSC Ensembl
Outerchr3:136010609..136034159hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3823551
hg1923551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270821, nssv14270824, nssv14270819, nssv14270823, nssv14270818, nssv14270822, nssv14270820
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesPCCB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203089
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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