A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559720



Internal ID22428516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10623061..10623061hg38UCSC Ensembl
chr12:10775660..10775660hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14359549, nssv14359548
SamplesNA19239, NA19240
Known GenesSTYK1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559720
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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