Variant Details

Variant: nsv442797

Internal ID

15501516

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:38967614..38979302	hg38	UCSC Ensembl
Inner	chr22:39363619..39375307	hg19	UCSC Ensembl
Inner	chr22:37693565..37705253	hg18	UCSC Ensembl
Inner	chr22:37688119..37699807	hg17	UCSC Ensembl

Cytoband

22q13.1

Allele length

Assembly	Allele length
hg38	11689
hg19	11689
hg18	11689
hg17	11689

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1654901, nssv1654940, nssv1654917, nssv1654888, nssv1654889, nssv1654902, nssv1654923, nssv1654921, nssv1654938, nssv1654897, nssv1654878, nssv1654895, nssv1654916, nssv1654910, nssv1654933, nssv1654936, nssv1654925, nssv1654926, nssv1654932, nssv1654929, nssv1654906, nssv1654896, nssv1654919, nssv1654930, nssv1654898, nssv1654894, nssv1654924, nssv1654900, nssv1654887, nssv1654944, nssv1654928, nssv1654907, nssv1654931, nssv1654918, nssv1654914, nssv1654881, nssv1654913, nssv1654943, nssv1654908, nssv1654915, nssv1654890, nssv1654912, nssv1654892, nssv1654877, nssv1654883, nssv1654879, nssv1654935, nssv1654891, nssv1654934, nssv1654904, nssv1654920, nssv1654905, nssv1654882, nssv1654945, nssv1654909, nssv1654899, nssv1654903, nssv1654937, nssv1654884, nssv1654942, nssv1654939, nssv1654886, nssv1654922, nssv1654911, nssv1654893, nssv1654885, nssv1654941, nssv1654927, nssv1654880

Samples

NA12717, NA18947, NA19204, NA18561, NA18507, NA18999, NA18603, NA18545, NA12146, NA18959, NA18526, NA12813, NA18944, NA18995, NA18960, NA18571, NA18611, NA18970, NA18990, NA10839, NA18973, NA19007, NA10847, NA18951, NA18605, NA18956, NA18991, NA18529, NA18579, NA18572, NA18976, NA18948, NA18537, NA18566, NA10830, NA18912, NA18532, NA12707, NA06985, NA18523, NA18945, NA19012, NA18576, NA18608, NA19003, NA18632, NA18542, NA06991, NA18961, NA18952, NA12864, NA18540, NA12873, NA18992, NA18943, NA12763, NA18971, NA18987, NA18636, NA18521, NA18506, NA18968, NA18624, NA12006, NA18623, NA12154, NA18622, NA18562, NA18620

Known Genes

APOBEC3A_B

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)

nsv442797

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	69
Observed Complex	0
Frequency	n/a