A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210191



Internal ID22358149
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14330997, nssv14330998, nssv14330999, nssv14331002, nssv14330996, nssv14331000, nssv14330994, nssv14330995, nssv14331001
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCTAGE9, ENPP3, OR2A4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210191
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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