A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270631



Internal ID22259143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50007541..50014256hg38UCSC Ensembl
Outerchr3:50044974..50051689hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385592
hg195592
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217684
Supporting Variants
SamplesNA19238
Known GenesRBM6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270631
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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