A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608200



Internal ID16048923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111438856..113012799hg38UCSC Ensembl
Innerchr7:111078912..112652854hg19UCSC Ensembl
Innerchr7:110866148..112440090hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381573944
hg191573943
hg181573943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092728
Samples
Known GenesC7orf60, DOCK4, DOCK4-AS1, IFRD1, IMMP2L, LSMEM1, TMEM168, ZNF277
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608200
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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