A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608048



Internal ID16048771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102609111..102637105hg38UCSC Ensembl
Innerchr7:102249558..102277552hg19UCSC Ensembl
Innerchr7:102036621..102064790hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3827995
hg1927995
hg1828170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092058
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)nsv608048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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