Variant Details

Variant: nsv9439

Internal ID

15500665

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr16:31943783..34016243	hg38	UCSC Ensembl
Outer	chr16:31955104..33818710	hg19	UCSC Ensembl
Outer	chr16:31862605..33726211	hg18	UCSC Ensembl
Outer	chr16:31862605..33726211	hg17	UCSC Ensembl

Cytoband

16p11.2

Allele length

Assembly	Allele length
hg38	2072461
hg19	1863607
hg18	1863607
hg17	1863607

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv21101, nssv20560, nssv22829, nssv23447, nssv20470, nssv28066, nssv24173, nssv25545, nssv26827, nssv25591, nssv23560, nssv27913, nssv22172, nssv20981, nssv20440, nssv23588, nssv23796, nssv26631, nssv23333, nssv26159, nssv26816, nssv23419, nssv26361, nssv26316, nssv20320, nssv26535, nssv24067, nssv22442, nssv23410, nssv24325, nssv24094, nssv23044, nssv22146, nssv20951, nssv23286, nssv24403, nssv23465, nssv22142, nssv20350, nssv24628, nssv22987, nssv23476, nssv22653, nssv23109, nssv27987, nssv22356, nssv22326, nssv26920, nssv28069, nssv26311, nssv28075, nssv23521, nssv24732, nssv23616, nssv26591, nssv22476, nssv22382, nssv28060, nssv25637, nssv23532, nssv24121, nssv27992, nssv23277, nssv22858, nssv22232, nssv23118, nssv23128, nssv27977, nssv23324, nssv25107, nssv21131, nssv22903, nssv22022, nssv21472, nssv26579, nssv21992, nssv25614, nssv26963, nssv23742, nssv24758, nssv26264, nssv23503, nssv23549, nssv23090, nssv26299, nssv22771, nssv23656, nssv26505, nssv23174, nssv22683, nssv22623, nssv22916, nssv23146, nssv26451, nssv22202, nssv21202, nssv23438, nssv20329, nssv26246, nssv28071, nssv26227, nssv23212, nssv24360, nssv23475, nssv26605, nssv22932, nssv26208, nssv24040, nssv26345, nssv23628, nssv22929, nssv25212, nssv21232, nssv20500, nssv26222, nssv24680, nssv23466, nssv22112, nssv22800, nssv23193, nssv23051, nssv22945, nssv26909, nssv25237, nssv23130, nssv21322, nssv24429, nssv26479, nssv23314, nssv24140, nssv24225, nssv26942, nssv26428, nssv23186, nssv23296, nssv20921, nssv25568, nssv22292, nssv23572, nssv23428, nssv24490, nssv23249, nssv21041, nssv22640, nssv27972, nssv24166, nssv23165, nssv23949, nssv26644, nssv26318, nssv26294, nssv22699, nssv20465, nssv26333, nssv22344, nssv24087, nssv21011, nssv26328, nssv23015, nssv20375, nssv24377, nssv24269, nssv20525, nssv26618, nssv20389, nssv27967, nssv27961, nssv26301, nssv26437, nssv22052, nssv26493, nssv21382, nssv26519, nssv24199, nssv20555, nssv26277, nssv24654, nssv23409, nssv23137, nssv27949, nssv27982, nssv25396, nssv22874, nssv22816, nssv22593, nssv24464, nssv24706, nssv23714, nssv27996, nssv26335, nssv23158, nssv23214, nssv22959, nssv22712, nssv24351, nssv23504, nssv22266, nssv25734, nssv20449, nssv20269, nssv22988, nssv25660, nssv22787, nssv23544, nssv22958, nssv26931, nssv24412, nssv24114, nssv27955, nssv23400, nssv23202, nssv23361, nssv28063, nssv26422, nssv26413, nssv25499, nssv23305, nssv25682, nssv24252, nssv24455, nssv24226, nssv22386, nssv25157, nssv26521, nssv20359, nssv22728, nssv26953, nssv22446, nssv22176, nssv28073, nssv23221, nssv22845, nssv22206, nssv22236, nssv22974, nssv20380, nssv22472, nssv23605, nssv21352, nssv23258, nssv24147, nssv23437, nssv23240, nssv24386, nssv22262, nssv23516, nssv23184, nssv23600, nssv23493, nssv20299, nssv25132, nssv24060, nssv24334, nssv22887, nssv23577, nssv23633, nssv28077, nssv26507, nssv23156, nssv22352, nssv23230, nssv26140, nssv26352, nssv23016, nssv24516, nssv25421, nssv26282, nssv22296, nssv26838, nssv20530, nssv23342, nssv23102, nssv24542, nssv26465, nssv24033, nssv20495, nssv26259, nssv22322, nssv24308, nssv23268, nssv23769, nssv26577, nssv23976, nssv26368, nssv26533, nssv25756, nssv24438, nssv20435, nssv22670, nssv25262, nssv21292, nssv25371, nssv25522, nssv25476, nssv26241, nssv23352, nssv26407, nssv21262

Samples

NA18502, 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 Genes

HERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D

Method

Oligo aCGH

Analysis

Statistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2

Platform

Agilent-015686 Custom Human 244K CGH Microarray

Comments

Reference

Perry_et_al_2008

Pubmed ID

18304495

Accession Number(s)

nsv9439

Frequency

Sample Size	31
Observed Gain	23
Observed Loss	29
Observed Complex	0
Frequency	n/a