A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9551



Internal ID15847463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41225989..41276262hg38UCSC Ensembl
Outerchr17:39382241..39432514hg19UCSC Ensembl
Outerchr17:36635767..36686040hg18UCSC Ensembl
Outerchr17:36635767..36686040hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3850274
hg1950274
hg1850274
hg1750274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25384, nssv26944, nssv27375, nssv24400, nssv28277, nssv25155, nssv27423, nssv23343, nssv26071, nssv24375, nssv23778, nssv23200, nssv20950, nssv24128, nssv27070, nssv22905, nssv25903, nssv22934, nssv24223, nssv27044, nssv25409, nssv24521, nssv27062, nssv24022, nssv24912, nssv27080, nssv23709, nssv23304, nssv21491, nssv27384, nssv26421
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10863, NA12872, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA19173, NA18972, NA18552
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9
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)nsv9551
Frequency
Sample Size31
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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