A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227750



Internal ID22370147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:94700042..94713447hg38UCSC Ensembl
Outerchr9:97462324..97475729hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3813406
hg1913406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281247, nssv14281246
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227750
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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