A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17679



Internal ID15484844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7551260..7584746hg38UCSC Ensembl
Outerchr8:7551233..7585214hg38UCSC Ensembl
Innerchr8:7408782..7442268hg19UCSC Ensembl
Outerchr8:7408755..7442736hg19UCSC Ensembl
Innerchr8:7396192..7429678hg18UCSC Ensembl
Outerchr8:7396165..7430146hg18UCSC Ensembl
Innerchr8:7396192..7429678hg17UCSC Ensembl
Outerchr8:7396165..7430146hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3833982
hg1933982
hg1833982
hg1733982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA12740
Known GenesFAM90A7P
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)nssv17679
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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