A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253093



Internal ID22191589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:125965033..126006248hg38UCSC Ensembl
Outerchr9:128727312..128768527hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240615
Supporting Variants
SamplesHG00731
Known GenesPBX3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253093
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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