A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv739525



Internal ID15686795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246251760..246262560hg38UCSC Ensembl
Innerchr1:246415062..246425862hg19UCSC Ensembl
Innerchr1:244481685..244492485hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3810801
hg1910801
hg1810801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549534
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)nssv739525
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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