Variant Details

Variant: nsv470479

Internal ID

15210352

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:110072078..110224953	hg38	UCSC Ensembl
Inner	chr2:110829655..110982530	hg19	UCSC Ensembl
Inner	chr2:110186944..110339819	hg18	UCSC Ensembl

Cytoband

2q13

Allele length

Assembly	Allele length
hg38	152876
hg19	152876
hg18	152876

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv547239, nssv547240, nssv547238, nssv547241

Samples

HGDP01271, HGDP00556, HGDP01261, HGDP00587

Known Genes

LINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1

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)

nsv470479

Frequency

Sample Size	443
Observed Gain	4
Observed Loss	0
Observed Complex	0
Frequency	n/a