Variant Details

Variant: nsv442748

Internal ID

15154781

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:46088435..46286848	hg38	UCSC Ensembl
Inner	chr17:44165801..44364214	hg19	UCSC Ensembl
Inner	chr17:41521619..41719991	hg18	UCSC Ensembl
Inner	chr17:41521619..41719991	hg17	UCSC Ensembl

Cytoband

17q21.31

Allele length

Assembly	Allele length
hg38	198414
hg19	198414
hg18	198373
hg17	198373

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1651304, nssv1651290, nssv1651294, nssv1651312, nssv1651299, nssv1651301, nssv1651318, nssv1651298, nssv1651309, nssv1651313, nssv1651330, nssv1651331, nssv1651307, nssv1651280, nssv1651281, nssv1651285, nssv1651310, nssv1651279, nssv1651334, nssv1651303, nssv1651319, nssv1651282, nssv1651315, nssv1651276, nssv1651328, nssv1651297, nssv1651293, nssv1651286, nssv1651316, nssv1651288, nssv1651321, nssv1651291, nssv1651289, nssv1651287, nssv1651317, nssv1651295, nssv1651275, nssv1651335, nssv1651326, nssv1651311, nssv1651320, nssv1651296, nssv1651305, nssv1651323, nssv1651292, nssv1651333, nssv1651308, nssv1651284, nssv1651277, nssv1651329, nssv1651302, nssv1651332, nssv1651324, nssv1651306, nssv1651314, nssv1651283, nssv1651325, nssv1651327, nssv1651300, nssv1651322, nssv1651278

Samples

NA11995, NA12236, NA12751, NA12248, NA12146, NA12865, NA12155, NA12813, NA12812, NA10835, NA10846, NA10854, NA12891, NA11992, NA07048, NA12762, NA06993, NA12761, NA12005, NA07019, NA12156, NA12044, NA11994, NA12815, NA10855, NA10839, NA11993, NA10847, NA12752, NA07022, NA12753, NA10863, NA10831, NA12878, NA12872, NA11839, NA12234, NA10830, NA12892, NA12239, NA12264, NA12707, NA07345, NA12144, NA06985, NA12043, NA11882, NA11881, NA12864, NA12057, NA10859, NA12873, NA12874, NA07348, NA12763, NA07055, NA12740, NA06994, NA10860, NA12006, NA11832

Known Genes

KANSL1, KANSL1-AS1, LOC644172

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)

nsv442748

Frequency

Sample Size	270
Observed Gain	61
Observed Loss	0
Observed Complex	0
Frequency	n/a