A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608049



Internal ID16048772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102609111..102646638hg38UCSC Ensembl
Innerchr7:102249558..102287085hg19UCSC Ensembl
Innerchr7:102036621..102074321hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3837528
hg1937528
hg1837701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11550n54
Supporting Variantsnssv1092059
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, UPK3BL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608049
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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