A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592045



Internal ID16032768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151052827..151377305hg38UCSC Ensembl
Innerchr3:150770614..151095093hg19UCSC Ensembl
Innerchr3:152253304..152577783hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38324479
hg19324480
hg18324480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv976760
Samples
Known GenesCLRN1-AS1, GPR171, GPR87, MED12L, P2RY12, P2RY13, P2RY14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592045
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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