Variant Details

Variant: nsv470539

Internal ID

15557099

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:5806690..5847729	hg38	UCSC Ensembl
Inner	chr20:5787336..5828375	hg19	UCSC Ensembl
Inner	chr20:5735336..5776375	hg18	UCSC Ensembl

Cytoband

20p12.3

Allele length

Assembly	Allele length
hg38	41040
hg19	41040
hg18	41040

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv547348, nssv547349

Samples

HGDP01281, HGDP00983

Known Genes

C20orf196

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

Single-copy duplication

Reference

Jakobsson_et_al_2008

Pubmed ID

18288195

Accession Number(s)

nsv470539

Frequency

Sample Size	443
Observed Gain	2
Observed Loss	0
Observed Complex	0
Frequency	n/a