A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280814



Internal ID22278090
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241679
Supporting Variants
SamplesNA19239
Known GenesRFX3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280814
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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