A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549438



Internal ID16336847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239611370..239648803hg38UCSC Ensembl
Innerchr1:239774670..239812103hg19UCSC Ensembl
Innerchr1:237841293..237878726hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3837434
hg1937434
hg1837434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738874, nssv738875
Samples
Known GenesCHRM3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549438
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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