A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15945



Internal ID15488226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102518766..102525062hg38UCSC Ensembl
Outerchr7:102517233..102525107hg38UCSC Ensembl
Innerchr7:102159213..102165509hg19UCSC Ensembl
Outerchr7:102157680..102165554hg19UCSC Ensembl
Innerchr7:101946218..101952514hg18UCSC Ensembl
Outerchr7:101944685..101952559hg18UCSC Ensembl
Innerchr7:101752933..101759229hg17UCSC Ensembl
Outerchr7:101751400..101759274hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg387875
hg197875
hg187875
hg177875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8192
Supporting Variants
SamplesNA18537
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)nssv15945
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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