A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549493



Internal ID15990216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244721983..244856983hg38UCSC Ensembl
Innerchr1:244885285..245020285hg19UCSC Ensembl
Innerchr1:242951908..243086908hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38135001
hg19135001
hg18135001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739419
Samples
Known GenesCOX20, HNRNPU, HNRNPU-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549493
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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