A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191956



Internal ID22342600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116014510..116015863hg38UCSC Ensembl
chr1:116557131..116558484hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg381354
hg191354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287210, nssv14287216, nssv14287217, nssv14287213, nssv14287212, nssv14287215, nssv14287214, nssv14287209, nssv14287211
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC22A15
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191956
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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