A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22407



Internal ID15495229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133537238..133768656hg38UCSC Ensembl
Outerchr10:133536087..133769377hg38UCSC Ensembl
Innerchr10:135350742..135505981hg19UCSC Ensembl
Outerchr10:135349591..135506702hg19UCSC Ensembl
Innerchr10:135200732..135355971hg18UCSC Ensembl
Outerchr10:135199581..135356692hg18UCSC Ensembl
Innerchr10:135239623..135394862hg17UCSC Ensembl
Outerchr10:135238472..135395583hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38233291
hg19157112
hg18157112
hg17157112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8752
Supporting Variants
SamplesNA19132
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, 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)nssv22407
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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