A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200236



Internal ID22349717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:16195902..16200185hg38UCSC Ensembl
Outerchr3:16237409..16241692hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg384284
hg194284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270359, nssv14270358
SamplesNA19238, HG00513
Known GenesGALNT15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200236
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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