A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223041



Internal ID22366928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42499262..42500726hg38UCSC Ensembl
chr8:42356780..42358244hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341637, nssv14341639, nssv14341635, nssv14341633, nssv14341632, nssv14341636, nssv14341640, nssv14341634, nssv14341638
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC20A2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223041
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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