A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8160



Internal ID15499386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76515400..76544507hg38UCSC Ensembl
Outerchr7:76144717..76173824hg19UCSC Ensembl
Outerchr7:75982653..76011760hg18UCSC Ensembl
Outerchr7:75789368..75818475hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3829108
hg1929108
hg1829108
hg1729108
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18674, nssv15814, nssv18353, nssv18133, nssv14291, nssv15294, nssv16891, nssv14830, nssv17991, nssv15805, nssv19290, nssv15886, nssv16861, nssv15745, nssv16258, nssv15847, nssv16718, nssv16218, nssv15142, nssv17961, nssv15903
SamplesNA12802, NA18975, NA10839, NA18972, NA18517, NA19144, NA18860, NA12155, NA07048, NA12872, NA18504, NA18564, NA18942, NA19221, NA18552, NA11830, NA19240, NA18980
Known GenesUPK3B
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)nsv8160
Frequency
Sample Size31
Observed Gain7
Observed Loss14
Observed Complex0
Frequencyn/a


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