A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9564



Internal ID15500790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46087818..46709842hg38UCSC Ensembl
Outerchr17:44165184..44787208hg19UCSC Ensembl
Outerchr17:41521002..42142391hg18UCSC Ensembl
Outerchr17:41521002..42142391hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38622025
hg19622025
hg18621390
hg17621390
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24659, nssv23913, nssv23340, nssv24504, nssv21125, nssv26965, nssv27112, nssv21035, nssv26955, nssv24759, nssv28321, nssv26478, nssv26252, nssv23791, nssv24784, nssv21095, nssv25285, nssv27102, nssv24685, nssv25511, nssv21559, nssv28319, nssv23964, nssv23418, nssv21100, nssv24711, nssv26288, nssv23513, nssv21551, nssv23859, nssv24258, nssv23569, nssv21040, nssv23446, nssv26464, nssv26492, nssv21529, nssv23284, nssv23597, nssv25260, nssv24809, nssv23020, nssv23541, nssv23048, nssv27110, nssv27054, nssv24208, nssv23818, nssv23312, nssv24733, nssv24234, nssv23764, nssv23485, nssv24478, nssv26270, nssv24331, nssv21005, nssv23886, nssv24232, nssv25488, nssv25995, nssv24707, nssv23256, nssv24206, nssv24962, nssv27122
SamplesNA12802, NA18975, NA19173, NA10839, NA10847, NA18972, NA18517, NA19144, NA07029, NA10863, NA12155, NA18563, NA12740, NA07048, NA18537, NA18572, NA18502, NA12872, NA18504, NA18564, NA18942, NA19221, NA18552, NA19132, NA11830, NA19240, NA18853, NA18980
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
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)nsv9564
Frequency
Sample Size31
Observed Gain25
Observed Loss6
Observed Complex0
Frequencyn/a


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