A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16659



Internal ID15484566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102494266..102509332hg38UCSC Ensembl
Outerchr7:102493755..102509504hg38UCSC Ensembl
Innerchr7:102134713..102149779hg19UCSC Ensembl
Outerchr7:102134202..102149951hg19UCSC Ensembl
Innerchr7:101921718..101936784hg18UCSC Ensembl
Outerchr7:101921207..101936956hg18UCSC Ensembl
Innerchr7:101728433..101743499hg17UCSC Ensembl
Outerchr7:101727922..101743671hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3815750
hg1915750
hg1815750
hg1715750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA12740
Known GenesRASA4B
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv16659
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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