A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528870



Internal ID22398262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123425273..123429441hg38UCSC Ensembl
chr12:123909820..123913988hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384169
hg194169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365987, nssv14365986
SamplesHG00512, HG00514
Known GenesRILPL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528870
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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