A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207731



Internal ID22356077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:28535228..28582399hg38UCSC Ensembl
Outerchr3:28576719..28623890hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3847172
hg1947172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271522
SamplesHG00732
Known GenesLINC00693
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207731
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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