A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549521



Internal ID16336930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245787340..246065943hg38UCSC Ensembl
Innerchr1:245950642..246229245hg19UCSC Ensembl
Innerchr1:244017265..244295868hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38278604
hg19278604
hg18278604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174087
SamplesHGDP00537
Known GenesSMYD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549521
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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