A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549289



Internal ID15990012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228140298..228183397hg38UCSC Ensembl
Innerchr1:228327999..228371098hg19UCSC Ensembl
Innerchr1:226394622..226437721hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3843100
hg1943100
hg1843100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv839n54
Supporting Variantsnssv737461
Samples
Known GenesGJC2, GUK1, IBA57, IBA57-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549289
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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