A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7879



Internal ID15499105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10001..127330hg38UCSC Ensembl
Outerchr1:10001..127330hg19UCSC Ensembl
Outerchr1:1..117193hg18UCSC Ensembl
Outerchr1:1..117193hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38117330
hg19117330
hg18117193
hg17117193
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14766, nssv21423, nssv18093, nssv14788, nssv14787, nssv14784, nssv14781, nssv18113, nssv14764, nssv18103, nssv14762, nssv18117, nssv14774, nssv14790, nssv14771, nssv14763, nssv14776, nssv14772, nssv14770, nssv14785, nssv14783, nssv14775, nssv14777, nssv14789, nssv14780, nssv14768, nssv14782, nssv14791, nssv14786, nssv14773
SamplesNA18502, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10863, NA12872, NA19221, NA18537, NA18853, NA19132, NA18517, NA19240, NA19144, NA19173, NA18972, NA18552
Known GenesDDX11L1, FAM138A, FAM138F, LOC100288778, MIR6859-1, MIR6859-2, OR4F5, WASH7P
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)nsv7879
Frequency
Sample Size31
Observed Gain25
Observed Loss1
Observed Complex0
Frequencyn/a


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