A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233060



Internal ID22372654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:102303786..102316871hg38UCSC Ensembl
Outerchr9:105066068..105079153hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg383240
hg193240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283606, nssv14283603, nssv14283607, nssv14283609, nssv14283610, nssv14283604, nssv14283605, nssv14283608
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233060
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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