A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324287



Internal ID22192451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149503333..149504525hg38UCSC Ensembl
chr5:148882896..148884088hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381193
hg191193
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197955
Supporting Variants
SamplesHG00731
Known GenesCSNK1A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324287
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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