A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549256



Internal ID16336665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:224014225..224029055hg38UCSC Ensembl
Innerchr1:224201927..224216757hg19UCSC Ensembl
Innerchr1:222268550..222283380hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg3814831
hg1914831
hg1814831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv830n54
Supporting Variantsnssv737341, nssv737342
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549256
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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