A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9353



Internal ID15500579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14691443..14709220hg38UCSC Ensembl
Outerchr16:14785300..14803077hg19UCSC Ensembl
Outerchr16:14692801..14710578hg18UCSC Ensembl
Outerchr16:14692801..14710578hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3817778
hg1917778
hg1817778
hg1717778
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23423, nssv23365, nssv24014, nssv20872, nssv25016, nssv22516, nssv25645, nssv22654, nssv22956, nssv25823, nssv26623, nssv23821, nssv26162, nssv25844, nssv20591, nssv26326
SamplesNA19173, NA10839, NA18972, NA18517, NA18860, NA12155, NA18537, NA18502, NA12872, NA18504, NA18942, NA18552, NA19132, NA11830
Known GenesPLA2G10
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)nsv9353
Frequency
Sample Size31
Observed Gain9
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer