A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608240



Internal ID16048963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:116206703..116400485hg38UCSC Ensembl
Innerchr7:115846757..116040539hg19UCSC Ensembl
Innerchr7:115633993..115827775hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38193783
hg19193783
hg18193783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092757
Samples
Known GenesTES
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608240
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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