A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607429



Internal ID16394838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:69965762..70088107hg38UCSC Ensembl
Innerchr7:69430748..69553093hg19UCSC Ensembl
Innerchr7:69068684..69191029hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38122346
hg19122346
hg18122346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1085704
Samples
Known GenesAUTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607429
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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