A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608460



Internal ID16049183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:135434669..135798303hg38UCSC Ensembl
Innerchr7:135119417..135483051hg19UCSC Ensembl
Innerchr7:134769957..135133591hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38363635
hg19363635
hg18363635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1094785
Samples
Known GenesC7orf73, CNOT4, FAM180A, NUP205, SLC13A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608460
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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