Variant Details

Variant: nsv470984

Internal ID

15210857

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:992394..1207411	hg38	UCSC Ensembl
Inner	chr5:992509..1207526	hg19	UCSC Ensembl
Inner	chr5:1045509..1260526	hg18	UCSC Ensembl

Cytoband

5p15.33

Allele length

Assembly	Allele length
hg38	215018
hg19	215018
hg18	215018

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv545072, nssv545071, nssv545073

Samples

HGDP00550, HGDP00825

Known Genes

LOC100506688, MIR4635, NKD2, SLC12A7, SLC6A19

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)

nsv470984

Frequency

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