A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192245



Internal ID22342857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90684399..90686151hg38UCSC Ensembl
chr6:91394118..91395870hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg381753
hg191753
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14327303, nssv14327297, nssv14327296, nssv14327302, nssv14327299, nssv14327298, nssv14327301, nssv14327300, nssv14327304
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192245
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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