A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576509



Internal ID16363918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12657248..12658044hg38UCSC Ensembl
Innerchr18:12657247..12658043hg19UCSC Ensembl
Innerchr18:12647247..12648043hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38797
hg19797
hg18797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5859n54
Supporting Variantsnssv878390, nssv878391
Samples
Known GenesSPIRE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576509
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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