Variant Details

Variant: nssv550825

Internal ID

15560121

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:120507726..120634893	hg38	UCSC Ensembl
Inner	chr1:144869936..145009137	hg19	UCSC Ensembl
Inner	chr1:143581293..143720494	hg18	UCSC Ensembl
Inner	chr1:142622758..142761959	hg16	UCSC Ensembl

Cytoband

1q21.1

Allele length

Assembly	Allele length
hg38	127168
hg19	139202
hg18	139202
hg16	139202

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv471603

Supporting Variants

Samples

NA15732

Known Genes

LOC100288142, NBPF12, NBPF9, PDE4DIP

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)

nssv550825

Frequency

Sample Size	48
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a