Variant Details

Variant: nssv547384

Internal ID

15209635

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:62378340..62415019	hg38	UCSC Ensembl
Inner	chr20:60953396..60990075	hg19	UCSC Ensembl
Inner	chr20:60386791..60423470	hg18	UCSC Ensembl

Cytoband

20q13.33

Allele length

Assembly	Allele length
hg38	36680
hg19	36680
hg18	36680

Variant Type

CNV loss

Copy Number

Allele State

Heterozygous

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv470556

Supporting Variants

Samples

HGDP01397

Known Genes

CABLES2, RBBP8NL, RPS21

Method

SNP array

Analysis

We used the previously validated default quality control criteria, excluding samples with a log R ratio standard deviation of >0.28, a median B allele frequency of >0.55 or <0.45, or a B allele frequency drift of >0.002 (for more details see Wang et al. 2007). As the PennCNV algorithm is more sensitive and specific to CNVs covering greater numbers of SNPs in the HumanHap550 array, use of a minimum number of SNPs in CNV detection increases the reliability of CNV calls (with a consequent reduction in calls per individual). We set 10 SNPs as the minimum detection threshold in the algorithm.

Platform

Illumina HumanHap550 Genotyping BeadChip v3

Comments

Reference

Jakobsson_et_al_2008

Pubmed ID

18288195

Accession Number(s)

nssv547384

Frequency

Sample Size	443
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a