A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549527



Internal ID16336936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246063264..246150421hg38UCSC Ensembl
Innerchr1:246226566..246313723hg19UCSC Ensembl
Innerchr1:244293189..244380346hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3887158
hg1987158
hg1887158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739518
Samples
Known GenesSMYD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549527
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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