A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1088520



Internal ID15595020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:78863326..79854164hg38UCSC Ensembl
Innerchr7:78492642..79483480hg19UCSC Ensembl
Innerchr7:78330578..79321416hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38990839
hg19990839
hg18990839
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607659
Supporting Variants
Samples
Known GenesMAGI2, MAGI2-AS2, MAGI2-AS3, MIR548M
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1088520
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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