A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206839



Internal ID22355324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:190014256..190024318hg38UCSC Ensembl
Outerchr3:189732045..189742107hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3810063
hg1910063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271735, nssv14271736, nssv14271737, nssv14271734, nssv14271739, nssv14271738
SamplesHG00512, NA19239, HG00732, NA19240, HG00733, HG00514
Known GenesLEPREL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206839
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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