A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10654



Internal ID15498931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:676170..1082573hg38UCSC Ensembl
Outerchr5:676285..1082688hg19UCSC Ensembl
Outerchr5:729285..1135688hg18UCSC Ensembl
Outerchr5:729285..1135688hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38406404
hg19406404
hg18406404
hg17406404
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12736, nssv15053, nssv13128, nssv15240, nssv14307, nssv12705, nssv12675, nssv15023, nssv13443, nssv13649, nssv12215, nssv12185, nssv13619, nssv13389, nssv14323, nssv14293, nssv14322, nssv13134, nssv15270, nssv12795, nssv13158, nssv13359, nssv13225, nssv13174, nssv13195, nssv13040, nssv13801, nssv14383, nssv12647, nssv13988, nssv13831, nssv13529, nssv13299, nssv12662, nssv12796, nssv14474, nssv12735, nssv14481, nssv14292, nssv14993, nssv13010, nssv13711, nssv13068, nssv14353, nssv13329, nssv12825, nssv12707, nssv13234, nssv14391, nssv12622, nssv15143, nssv13559, nssv14451, nssv13168, nssv12040, nssv12677, nssv15210, nssv14217, nssv12191, nssv13353, nssv12576, nssv12070, nssv14534, nssv13741, nssv12706, nssv12836, nssv11959, nssv14361, nssv13194, nssv12676, nssv13323, nssv13204, nssv12787, nssv13228, nssv13589, nssv13198, nssv13164, nssv14337, nssv14262, nssv13383, nssv11989, nssv14352, nssv14277, nssv14247, nssv15083, nssv13958, nssv14504, nssv14963
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18972, NA18552
Known GenesBRD9, LOC100506688, MIR4635, NKD2, SLC12A7, TPPP, TRIP13, ZDHHC11
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)nsv10654
Frequency
Sample Size31
Observed Gain29
Observed Loss10
Observed Complex0
Frequencyn/a


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