A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8192



Internal ID15499418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102450605..102692752hg38UCSC Ensembl
Outerchr7:102091052..102333199hg19UCSC Ensembl
Outerchr7:101878057..102120435hg18UCSC Ensembl
Outerchr7:101684772..101927150hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38242148
hg19242148
hg18242379
hg17242379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19004, nssv18944, nssv15975, nssv16005, nssv18343, nssv16839, nssv16529, nssv16559, nssv17982, nssv16689, nssv16125, nssv14950, nssv19500, nssv14920, nssv16959, nssv16779, nssv18854, nssv14719, nssv15740, nssv16263, nssv16326, nssv16498, nssv18283, nssv16649, nssv14501, nssv18713, nssv16499, nssv16057, nssv16899, nssv16659, nssv16929, nssv16809, nssv16173, nssv16528, nssv16869, nssv18824, nssv16719, nssv16035, nssv15232, nssv16143, nssv16113, nssv16589, nssv16356, nssv18313, nssv15915, nssv16203, nssv14659, nssv16155, nssv18914, nssv16296, nssv15945, nssv18974, nssv16619, nssv17071, nssv18381, nssv15677, nssv14689, nssv18884, nssv17018, nssv18297, nssv16065, nssv15985, nssv16233, nssv14809, nssv19034
SamplesNA12802, NA19173, NA18972, NA18517, NA19144, NA18860, NA10863, NA12155, NA18563, NA12740, NA07048, NA18537, NA18572, NA18502, NA12872, NA18504, NA18942, NA19221, NA19132, NA11830, NA19240, NA18853, NA18980
Known GenesALKBH4, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)nsv8192
Frequency
Sample Size31
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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