A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14330994



Internal ID22124094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131697179..131714820hg38UCSC Ensembl
chr6:132018319..132035960hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3817642
hg1917642
Variant TypeCNV duplication
Copy Number11
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210191
Supporting Variants
SamplesHG00512
Known GenesCTAGE9, ENPP3, OR2A4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14330994
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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