A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199172



Internal ID22348797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32470746..32476346hg38UCSC Ensembl
chr1:32936347..32941947hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg385601
hg195601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14359337, nssv14359333, nssv14359335, nssv14359332, nssv14359334, nssv14359330, nssv14359331, nssv14359338, nssv14359336
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZBTB8B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199172
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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