A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8752



Internal ID15846664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133433659..133769377hg38UCSC Ensembl
Outerchr10:135247163..135506702hg19UCSC Ensembl
Outerchr10:135097153..135356692hg18UCSC Ensembl
Outerchr10:135136044..135395583hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38335719
hg19259540
hg18259540
hg17259540
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22673, nssv22062, nssv19326, nssv20019, nssv19593, nssv21841, nssv20437, nssv18894, nssv19316, nssv19520, nssv24776, nssv19654, nssv19735, nssv19366, nssv22407, nssv19788, nssv19356, nssv20438, nssv17962, nssv19859, nssv19825, nssv17711
SamplesNA18502, NA11830, NA18980, NA12155, NA18942, NA07048, NA10839, NA18975, NA19007, NA10863, NA12872, NA19221, NA18853, NA19132, NA18564, NA19240, NA12740, NA19173, NA18972, NA18552
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, SCART1, SPRNP1, SYCE1
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)nsv8752
Frequency
Sample Size31
Observed Gain14
Observed Loss13
Observed Complex0
Frequencyn/a


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