A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9397



Internal ID15500623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21475432..21799054hg38UCSC Ensembl
Outerchr16:21486753..21810375hg19UCSC Ensembl
Outerchr16:21394254..21717876hg18UCSC Ensembl
Outerchr16:21394254..21717876hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38323623
hg19323623
hg18323623
hg17323623
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24032, nssv23647, nssv25934, nssv25913, nssv22578, nssv20200, nssv22783, nssv21842, nssv26266, nssv22995, nssv25221, nssv22383, nssv27790, nssv22608, nssv26078, nssv26687, nssv24122, nssv22859, nssv20255, nssv22637, nssv20801
SamplesNA12802, NA19173, NA10839, NA10847, NA18972, NA18517, NA19144, NA18860, NA07029, NA12155, NA18563, NA07048, NA12872, NA18504, NA18564, NA19221, NA18552, NA19132, NA18980
Known GenesIGSF6, LOC100271836, METTL9, OTOA, RRN3P1, SLC7A5P2
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)nsv9397
Frequency
Sample Size31
Observed Gain18
Observed Loss1
Observed Complex0
Frequencyn/a


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