A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576227



Internal ID16016950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:52933..322183hg38UCSC Ensembl
Innerchr18:52933..322183hg19UCSC Ensembl
Innerchr18:42933..312183hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38269251
hg19269251
hg18269251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv877281
Samples
Known GenesCOLEC12, MIR8078, ROCK1P1, THOC1, USP14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576227
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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