A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8037



Internal ID15499263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:5970445..5978599hg38UCSC Ensembl
Outerchr7:6010076..6018230hg19UCSC Ensembl
Outerchr7:5976602..5984756hg18UCSC Ensembl
Outerchr7:5783317..5791471hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg388155
hg198155
hg188155
hg178155
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180
SamplesNA19221
Known GenesPMS2, RSPH10B, RSPH10B2
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)nsv8037
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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