A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205266



Internal ID22353983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206052852..206058643hg38UCSC Ensembl
chr1:206282728..206288518hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385792
hg195791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304917, nssv14304921, nssv14304916, nssv14304919, nssv14304920, nssv14304918, nssv14304915, nssv14304914
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC1orf186
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205266
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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