Variant Details

Variant: nssv550335

Internal ID

15213553

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:12155207..12371588	hg38	UCSC Ensembl
Inner	chr1:12215264..12431643	hg19	UCSC Ensembl
Inner	chr1:12137851..12354230	hg18	UCSC Ensembl
Inner	chr1:11924810..12112733	hg16	UCSC Ensembl

Cytoband

1p36.22

Allele length

Assembly	Allele length
hg38	216382
hg19	216380
hg18	216380
hg16	187924

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv471622

Supporting Variants

Samples

NA16688

Known Genes

MIR4632, MIR7846, TNFRSF1B, VPS13D

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)

nssv550335

Frequency

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