A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197955



Internal ID22347761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149503333..149504525hg38UCSC Ensembl
chr5:148882896..148884088hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381193
hg191193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323670, nssv14324291, nssv14324289, nssv14324288, nssv14324292, nssv14323669, nssv14324286, nssv14324290, nssv14324287
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCSNK1A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197955
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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