Variant Details

Variant: nsv471614

Internal ID

15214433

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:196700381..196986100	hg38	UCSC Ensembl
Inner	chr1:196669511..196955230	hg19	UCSC Ensembl
Inner	chr1:194936134..195221853	hg18	UCSC Ensembl
Inner	chr1:193957770..194243489	hg16	UCSC Ensembl

Cytoband

1q31.3

Allele length

Assembly	Allele length
hg38	285720
hg19	285720
hg18	285720
hg16	285720

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv549509, nssv550688, nssv549512, nssv549511, nssv550689, nssv549504, nssv549503, nssv550686, nssv549507, nssv549508, nssv549505, nssv549501, nssv550687, nssv549506, nssv549513, nssv549502, nssv549510

Samples

JK1051A, NA10469, JK776, P86GA, NA10496, NA10470, NA10471, NA10472, JK1058B, JK1061, NA15729, NA17014, NA10493

Known Genes

CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5

Method

BAC aCGH

Analysis

Array image analysis and normalization were performed using UCSF Spot and Sproc software (Jain et al. 2002). BACs for which only one of the triplicates printed on the array yielded data, or for which the standard deviation of log2 ratio for the triplicates was 10.2, were removed from final analysis. Furthermore, we discarded BACs that failed to yield data in <20% of cases. For each hybridization experiment, we established a threshold log2 ratio of 2 SDs from the mean of all autosomal clones, and BACs that exceeded this threshold in both independent dye-swap experiments were classified as variant.

Platform

GPL4010

Comments

Reference

Sharp_et_al_2005

Pubmed ID

15918152

Accession Number(s)

nsv471614

Frequency

Sample Size	48
Observed Gain	2
Observed Loss	11
Observed Complex	0
Frequency	n/a