Variant Details

Variant: nsv442679

Internal ID

15501398

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:19732024..19955213	hg38	UCSC Ensembl
Inner	chr14:20200183..20423372	hg19	UCSC Ensembl
Inner	chr14:19270023..19493212	hg18	UCSC Ensembl
Inner	chr14:19270023..19493212	hg17	UCSC Ensembl

Cytoband

14q11.2

Allele length

Assembly	Allele length
hg38	223190
hg19	223190
hg18	223190
hg17	223190

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1646517, nssv1646535, nssv1646641, nssv1646523, nssv1646611, nssv1646529, nssv1646584, nssv1646557, nssv1646532, nssv1646528, nssv1646540, nssv1646604, nssv1646616, nssv1646551, nssv1646624, nssv1646613, nssv1646649, nssv1646547, nssv1646596, nssv1646607, nssv1646631, nssv1646552, nssv1646548, nssv1646648, nssv1646646, nssv1646565, nssv1646650, nssv1646512, nssv1646620, nssv1646626, nssv1646544, nssv1646543, nssv1646566, nssv1646642, nssv1646629, nssv1646603, nssv1646591, nssv1646589, nssv1646578, nssv1646506, nssv1646630, nssv1646539, nssv1646635, nssv1646520, nssv1646628, nssv1646527, nssv1646612, nssv1646511, nssv1646614, nssv1646579, nssv1646538, nssv1646602, nssv1646522, nssv1646595, nssv1646554, nssv1646627, nssv1646573, nssv1646586, nssv1646537, nssv1646572, nssv1646568, nssv1646504, nssv1646524, nssv1646564, nssv1646644, nssv1646569, nssv1646653, nssv1646606, nssv1646583, nssv1646545, nssv1646541, nssv1646643, nssv1646581, nssv1646536, nssv1646622, nssv1646619, nssv1646621, nssv1646507, nssv1646617, nssv1646518, nssv1646509, nssv1646599, nssv1646563, nssv1646562, nssv1646582, nssv1646652, nssv1646633, nssv1646577, nssv1646645, nssv1646625, nssv1646585, nssv1646530, nssv1646513, nssv1646546, nssv1646656, nssv1646558, nssv1646534, nssv1646609, nssv1646508, nssv1646519, nssv1646514, nssv1646640, nssv1646526, nssv1646542, nssv1646594, nssv1646533, nssv1646639, nssv1646571, nssv1646505, nssv1646559, nssv1646654, nssv1646610, nssv1646510, nssv1646605, nssv1646597, nssv1646588, nssv1646560, nssv1646618, nssv1646615, nssv1646516, nssv1646634, nssv1646608, nssv1646574, nssv1646531, nssv1646549, nssv1646598, nssv1646576, nssv1646575, nssv1646555, nssv1646638, nssv1646655, nssv1646592, nssv1646590, nssv1646550, nssv1646600, nssv1646593, nssv1646567, nssv1646651, nssv1646647, nssv1646553, nssv1646525, nssv1646636, nssv1646587, nssv1646580, nssv1646570, nssv1646632, nssv1646561, nssv1646637, nssv1646601, nssv1646556, nssv1646515, nssv1646521, nssv1646623

Samples

NA19141, NA12717, NA11830, NA19203, NA18621, NA19204, NA18592, NA12814, NA10851, NA18524, NA18980, NA18855, NA12236, NA18507, NA18999, NA18603, NA18545, NA12004, NA12801, NA18504, NA12248, NA18959, NA10857, NA19098, NA18526, NA12750, NA18969, NA18967, NA18563, NA19127, NA19192, NA19171, NA18550, NA12812, NA10835, NA18995, NA10854, NA12802, NA19119, NA18635, NA12891, NA18960, NA18942, NA18582, NA18571, NA19130, NA18949, NA12761, NA18970, NA19238, NA11994, NA19172, NA19128, NA12815, NA18990, NA10855, NA19239, NA10839, NA18975, NA18973, NA19200, NA11993, NA19007, NA11831, NA18605, NA12760, NA12752, NA19194, NA12753, NA10863, NA19152, NA12872, NA18956, NA19205, NA18516, NA18637, NA18579, NA18871, NA18572, NA18976, NA18948, NA10838, NA19208, NA19221, NA19202, NA18566, NA19142, NA19000, NA11840, NA10830, NA18856, NA12249, NA12056, NA19154, NA18857, NA12239, NA12264, NA19099, NA12707, NA06985, NA19160, NA19132, NA18570, NA18593, NA18945, NA19012, NA18576, NA12043, NA18608, NA18953, NA19003, NA18978, NA18632, NA19206, NA18542, NA11881, NA12864, NA18564, NA12057, NA19140, NA18913, NA19240, NA12873, NA18992, NA10861, NA18943, NA19193, NA12763, NA18594, NA19143, NA18971, NA19223, NA19173, NA18987, NA18994, NA19093, NA10860, NA18636, NA18609, NA19116, NA18872, NA19129, NA18968, NA18624, NA12006, NA18623, NA12154, NA07034, NA18562, NA18965, NA11832, NA18620, NA18997

Known Genes

OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3

Method

SNP array

Analysis

We used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.

Platform

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

Comments

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442679

Frequency

Sample Size	270
Observed Gain	153
Observed Loss	0
Observed Complex	0
Frequency	n/a