A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239934



Internal ID22374567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:19648016..19690320hg38UCSC Ensembl
Outerchr9:19648014..19690318hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg381607
hg191607
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282321, nssv14282323, nssv14282319, nssv14282322, nssv14282320, nssv14282325, nssv14282324
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSLC24A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239934
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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