A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576448



Internal ID16017171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9558242..9828451hg38UCSC Ensembl
Innerchr18:9558240..9828448hg19UCSC Ensembl
Innerchr18:9548240..9818448hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38270210
hg19270209
hg18270209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150588
Samples1782681555_A
Known GenesPPP4R1, RAB31
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576448
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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