Variant Details

Variant: nsv442726

Internal ID

15501445

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:74362396..74418138	hg38	UCSC Ensembl
Inner	chr16:74396294..74452036	hg19	UCSC Ensembl
Inner	chr16:72953795..73009537	hg18	UCSC Ensembl
Inner	chr16:72953795..73009537	hg17	UCSC Ensembl

Cytoband

16q22.3

Allele length

Assembly	Allele length
hg38	55743
hg19	55743
hg18	55743
hg17	55743

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1649781, nssv1649845, nssv1649785, nssv1649765, nssv1649758, nssv1649846, nssv1649764, nssv1649802, nssv1649812, nssv1649822, nssv1649878, nssv1649804, nssv1649810, nssv1649792, nssv1649832, nssv1649841, nssv1649780, nssv1649813, nssv1649757, nssv1649861, nssv1649858, nssv1649831, nssv1649849, nssv1649825, nssv1649774, nssv1649803, nssv1649856, nssv1649811, nssv1649773, nssv1649772, nssv1649885, nssv1649843, nssv1649788, nssv1649777, nssv1649748, nssv1649791, nssv1649790, nssv1649837, nssv1649857, nssv1649827, nssv1649872, nssv1649778, nssv1649883, nssv1649779, nssv1649808, nssv1649879, nssv1649750, nssv1649887, nssv1649836, nssv1649826, nssv1649860, nssv1649783, nssv1649817, nssv1649888, nssv1649868, nssv1649767, nssv1649863, nssv1649782, nssv1649881, nssv1649759, nssv1649886, nssv1649816, nssv1649766, nssv1649867, nssv1649880, nssv1649838, nssv1649864, nssv1649761, nssv1649775, nssv1649870, nssv1649793, nssv1649859, nssv1649877, nssv1649768, nssv1649786, nssv1649828, nssv1649809, nssv1649884, nssv1649854, nssv1649807, nssv1649882, nssv1649824, nssv1649847, nssv1649752, nssv1649799, nssv1649830, nssv1649801, nssv1649833, nssv1649835, nssv1649770, nssv1649844, nssv1649769, nssv1649796, nssv1649851, nssv1649814, nssv1649842, nssv1649850, nssv1649819, nssv1649795, nssv1649763, nssv1649889, nssv1649848, nssv1649794, nssv1649754, nssv1649756, nssv1649855, nssv1649866, nssv1649815, nssv1649865, nssv1649862, nssv1649874, nssv1649771, nssv1649760, nssv1649762, nssv1649834, nssv1649869, nssv1649806, nssv1649805, nssv1649798, nssv1649823, nssv1649797, nssv1649840, nssv1649852, nssv1649820, nssv1649787, nssv1649753, nssv1649821, nssv1649751, nssv1649800, nssv1649890, nssv1649776, nssv1649784, nssv1649829, nssv1649749, nssv1649891, nssv1649873, nssv1649876, nssv1649839, nssv1649789, nssv1649818, nssv1649853, nssv1649875, nssv1649871, nssv1649755

Samples

NA19141, NA19222, NA19203, NA18621, NA19204, NA18861, NA18592, NA18508, NA12814, NA10851, NA18524, NA18980, NA18855, NA12236, NA18561, NA18507, NA18545, NA07029, NA12004, NA12801, NA18504, NA12146, NA18959, NA12865, NA10857, NA19098, NA07357, NA12813, NA18563, NA19127, NA19171, NA19005, NA18550, NA12812, NA10846, NA12802, NA19119, NA18635, NA18860, NA18547, NA11992, NA18571, NA19138, NA19130, NA12761, NA12005, NA07019, NA12156, NA19137, NA19238, NA12044, NA11994, NA19128, NA19159, NA18990, NA10855, NA19239, NA18975, NA11993, NA19007, NA11831, NA10847, NA19210, NA12760, NA12752, NA07022, NA12753, NA10863, NA12872, NA19161, NA18956, NA18859, NA18515, NA19205, NA18516, NA18579, NA18572, NA18976, NA18503, NA11839, NA10838, NA12234, NA19208, NA19221, NA18537, NA18566, NA19142, NA11840, NA10830, NA18856, NA12056, NA18912, NA12892, NA12239, NA18853, NA12145, NA12707, NA07345, NA12144, NA06985, NA19160, NA18570, NA18858, NA18945, NA19012, NA18953, NA18978, NA18914, NA19206, NA18542, NA12716, NA18952, NA18517, NA18863, NA18540, NA18564, NA10859, NA18913, NA19240, NA10861, NA12874, NA07348, NA12763, NA07055, NA19143, NA18501, NA06994, NA19223, NA18500, NA18609, NA18506, NA19102, NA18854, NA18852, NA07056, NA19129, NA19139, NA12006, NA18522, NA12154, NA07034, NA18622, NA18562, NA18997

Known Genes

CLEC18B, LOC283922

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)

nsv442726

Frequency

Sample Size	270
Observed Gain	144
Observed Loss	0
Observed Complex	0
Frequency	n/a