A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187



Internal ID15495345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:71726..80209hg38UCSC Ensembl
Outerchr7:71168..80755hg38UCSC Ensembl
Innerchr7:71726..80209hg19UCSC Ensembl
Outerchr7:71168..80755hg19UCSC Ensembl
Innerchr7:166809..175292hg18UCSC Ensembl
Outerchr7:166251..175838hg18UCSC Ensembl
Innerchr7:166809..175292hg17UCSC Ensembl
Outerchr7:166251..175838hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg389588
hg199588
hg189588
hg179588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8023
Supporting Variants
SamplesNA19132
Known Genes
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)nssv17187
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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