A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228901



Internal ID22370932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49742329..49753428hg38UCSC Ensembl
Outerchr3:49779762..49790861hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270630, nssv14270628, nssv14270629, nssv14270627
SamplesHG00512, NA19238, HG00732, HG00513
Known GenesIP6K1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228901
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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