A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9504



Internal ID15500730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18389579..19238707hg38UCSC Ensembl
Outerchr17:18292893..19142020hg19UCSC Ensembl
Outerchr17:18233618..19082613hg18UCSC Ensembl
Outerchr17:18233618..19082613hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38849129
hg19849128
hg18848996
hg17848996
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25473, nssv22857, nssv28177, nssv26813, nssv23973, nssv24672, nssv23272, nssv24153, nssv25629, nssv22162, nssv23774, nssv20800, nssv23819, nssv21281, nssv26038, nssv27183, nssv26676, nssv26741, nssv24775, nssv24698, nssv20795, nssv26835, nssv26763, nssv26804, nssv26826, nssv26624, nssv24335, nssv23664, nssv20869, nssv23636, nssv23946, nssv21019, nssv23455, nssv21311, nssv24127, nssv23551, nssv26793, nssv26796, nssv22918, nssv22889, nssv22192, nssv26663, nssv23608, nssv26058, nssv25393, nssv26774, nssv24750, nssv23579, nssv23972, nssv24929, nssv20899, nssv26824, nssv22886, nssv26637, nssv25418, nssv23747, nssv26815, nssv24954, nssv23300, nssv22222, nssv26650, nssv25652, nssv26018, nssv25368, nssv20959, nssv26785, nssv20929, nssv24724, nssv24679, nssv24309, nssv20989, nssv23483, nssv22849, nssv26752
SamplesNA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18972, NA18552
Known GenesCCDC144B, EPN2, EVPLL, FAM106A, FAM83G, FBXW10, FLJ35934, FOXO3B, GRAP, GRAPL, KRT16P1, LGALS9C, LOC339240, PRPSAP2, SLC5A10, TBC1D28, TRIM16L, TVP23B, USP32P2, ZNF286B
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)nsv9504
Frequency
Sample Size31
Observed Gain24
Observed Loss24
Observed Complex0
Frequencyn/a


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