A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608080



Internal ID16048803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:109461248..111666297hg38UCSC Ensembl
Innerchr7:109101305..111306353hg19UCSC Ensembl
Innerchr7:108888541..111093589hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg382205050
hg192205049
hg182205049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092087
Samples
Known GenesEIF3IP1, IMMP2L, LRRN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608080
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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