A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16119



Internal ID15831510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29744122..29746944hg38UCSC Ensembl
Outerchr7:29742687..29747752hg38UCSC Ensembl
Innerchr7:29783738..29786560hg19UCSC Ensembl
Outerchr7:29782303..29787368hg19UCSC Ensembl
Innerchr7:29750263..29753085hg18UCSC Ensembl
Outerchr7:29748828..29753893hg18UCSC Ensembl
Innerchr7:29556978..29559800hg17UCSC Ensembl
Outerchr7:29555543..29560608hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg385066
hg195066
hg185066
hg175066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8072
Supporting Variants
SamplesNA12740
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)nssv16119
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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