A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289629



Internal ID22287773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:125795797..125816295hg38UCSC Ensembl
Outerchr9:128558076..128578574hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg385169
hg195169
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247671
Supporting Variants
SamplesNA19240
Known GenesPBX3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289629
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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