A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549435



Internal ID15990158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239211710..239810706hg38UCSC Ensembl
Innerchr1:239375010..239974006hg19UCSC Ensembl
Innerchr1:237441633..238040629hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38598997
hg19598997
hg18598997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738871
Samples
Known GenesCHRM3, CHRM3-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549435
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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