A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv739514



Internal ID15686784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245750982..245836536hg38UCSC Ensembl
Innerchr1:245914284..245999838hg19UCSC Ensembl
Innerchr1:243980907..244066461hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3885555
hg1985555
hg1885555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549520
Supporting Variants
Samples
Known GenesSMYD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv739514
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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