A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204166



Internal ID22353060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:177663458..177683861hg38UCSC Ensembl
Outerchr3:177381246..177401649hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3820404
hg1920404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270616, nssv14270618, nssv14270615, nssv14270617, nssv14270619
SamplesNA19238, NA19239, HG00731, HG00732, NA19240
Known GenesLINC00578
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204166
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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