A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16716



Internal ID15482834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143606236..143613777hg38UCSC Ensembl
Outerchr7:143605546..143614393hg38UCSC Ensembl
Innerchr7:143303329..143310870hg19UCSC Ensembl
Outerchr7:143302639..143311486hg19UCSC Ensembl
Innerchr7:143013451..143020992hg18UCSC Ensembl
Outerchr7:143012761..143021608hg18UCSC Ensembl
Innerchr7:142820166..142827707hg17UCSC Ensembl
Outerchr7:142819476..142828323hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388848
hg198848
hg188848
hg178848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA10863
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)nssv16716
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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