A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280733



Internal ID22185721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136796425..136815735hg38UCSC Ensembl
Outerchr9:139690877..139710187hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240744
Supporting Variants
SamplesHG00731
Known GenesCCDC183, CCDC183-AS1, RABL6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280733
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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