A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549355



Internal ID15990078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232388426..232435636hg38UCSC Ensembl
Innerchr1:232524172..232571382hg19UCSC Ensembl
Innerchr1:230590795..230638005hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3847211
hg1947211
hg1847211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738095
Samples
Known GenesSIPA1L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549355
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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