Variant Details

Variant: nsv469751

Internal ID

15187780

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:21078782..21261951	hg38	UCSC Ensembl
Inner	chr22:21433071..21616240	hg19	UCSC Ensembl
Inner	chr22:19763071..19946240	hg18	UCSC Ensembl
Inner	chr22:19757625..19940794	hg16	UCSC Ensembl

Cytoband

22q11.21

Allele length

Assembly	Allele length
hg38	183170
hg19	183170
hg18	183170
hg16	183170

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1672659, nssv1673575, nssv1676329, nssv1676496, nssv1672560, nssv1675635, nssv1675407, nssv1673318, nssv1676168, nssv1673126, nssv1673440, nssv1673116, nssv1672151, nssv1672760, nssv1672429, nssv1676003, nssv1676396, nssv1676138, nssv1673839, nssv1674332, nssv1676339, nssv1675955, nssv1676260, nssv1674959, nssv1674091, nssv1676324, nssv1675531, nssv1672758, nssv1675688, nssv1675729, nssv1675414, nssv1674588, nssv1674336, nssv1673339, nssv1672198, nssv1673792, nssv1672225, nssv1676483, nssv1675169, nssv1672792, nssv1676451, nssv1675326, nssv1676606, nssv1674234, nssv1675227, nssv1674632, nssv1675774, nssv1675563, nssv1673252, nssv1673829, nssv1674463, nssv1674849, nssv1672394, nssv1673869, nssv1675243, nssv1675490, nssv1676703, nssv1672240, nssv1676687, nssv1676174, nssv1672549, nssv1673901, nssv1675914, nssv1675018, nssv1672438, nssv1674341, nssv1675831, nssv1672375, nssv1673045, nssv1673483, nssv1673266, nssv1676205, nssv1673508, nssv1674447, nssv1674772, nssv1675843

Samples

Known Genes

BCRP2, FAM230B

Method

BAC aCGH

Analysis

A locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.

Platform

GPL4010

Comments

Reference

Locke_et_al_2006

Pubmed ID

16826518

Accession Number(s)

nsv469751

Frequency

Sample Size	265
Observed Gain	76
Observed Loss	0
Observed Complex	0
Frequency	n/a