A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576240



Internal ID16016963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:551688..2238246hg38UCSC Ensembl
Innerchr18:551688..2238246hg19UCSC Ensembl
Innerchr18:541688..2228246hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381686559
hg191686559
hg181686559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5810n54
Supporting Variantsnssv877292
Samples
Known GenesADCYAP1, C18orf56, CETN1, CLUL1, ENOSF1, LINC00470, TYMS, YES1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576240
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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