A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9563



Internal ID15500789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45494746..45629548hg38UCSC Ensembl
Outerchr17:43572112..43706914hg19UCSC Ensembl
Outerchr17:40927895..41062697hg18UCSC Ensembl
Outerchr17:40927895..41062697hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38134803
hg19134803
hg18134803
hg17134803
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27092, nssv21499, nssv24452, nssv25434, nssv24547, nssv23737, nssv24182, nssv21010, nssv23457, nssv22963, nssv27082, nssv22992, nssv23937, nssv25924, nssv24305, nssv26234, nssv24681, nssv24633, nssv25235, nssv23360, nssv21521, nssv28313, nssv23832, nssv23429, nssv20975, nssv24937, nssv28315, nssv25975, nssv24156, nssv23910, nssv23332, nssv26215, nssv23228, nssv24154, nssv28317, nssv24130, nssv24180, nssv26450, nssv20980
SamplesNA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18942, NA07048, NA10839, NA18975, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18552
Known GenesCRHR1, LOC644172, LRRC37A4P, MGC57346
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)nsv9563
Frequency
Sample Size31
Observed Gain21
Observed Loss12
Observed Complex0
Frequencyn/a


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