A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549290



Internal ID15990013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228145951..228162105hg38UCSC Ensembl
Innerchr1:228333652..228349806hg19UCSC Ensembl
Innerchr1:226400275..226416429hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3816155
hg1916155
hg1816155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737462
Samples
Known GenesGJC2, GUK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549290
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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