A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8242



Internal ID15499468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157493009..157555855hg38UCSC Ensembl
Outerchr7:157285703..157348549hg19UCSC Ensembl
Outerchr7:156978464..157041310hg18UCSC Ensembl
Outerchr7:156785179..156848025hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3862847
hg1962847
hg1862847
hg1762847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16315, nssv15804
SamplesNA18980, NA18975
Known GenesPTPRN2
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)nsv8242
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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