A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214706



Internal ID22361280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38356031..38369132hg38UCSC Ensembl
Outerchr3:38397522..38410623hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271381, nssv14271382, nssv14271380, nssv14271383
SamplesHG00512, NA19238, HG00732, HG00513
Known GenesXYLB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214706
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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