Variant Details

Variant: nsv471320

Internal ID

15211193

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:114284841..114346385	hg38	UCSC Ensembl
Inner	chr9:117047121..117108665	hg19	UCSC Ensembl
Inner	chr9:116086942..116148486	hg18	UCSC Ensembl

Cytoband

9q32

Allele length

Assembly	Allele length
hg38	61545
hg19	61545
hg18	61545

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv545895, nssv545902, nssv545896, nssv545897, nssv545890, nssv545900, nssv545889, nssv545891, nssv545892, nssv545888, nssv545894, nssv545901, nssv545899, nssv545893

Samples

HGDP00604, HGDP00578, HGDP00617, HGDP00559, HGDP00582, HGDP00561, HGDP00688, HGDP00600, HGDP00606, HGDP00584, HGDP00573, HGDP00572

Known Genes

AKNA, COL27A1, ORM1, ORM2

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

Double-copy duplication

Reference

Jakobsson_et_al_2008

Pubmed ID

18288195

Accession Number(s)

nsv471320

Frequency

Sample Size	443
Observed Gain	12
Observed Loss	0
Observed Complex	0
Frequency	n/a