A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241679



Internal ID22375036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:3503812..3506062hg38UCSC Ensembl
Outerchr9:3503812..3506062hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280813, nssv14280814
SamplesNA19239, HG00731
Known GenesRFX3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241679
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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