Variant Details

Variant: nsv833947

Internal ID

16111130

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr2:44341139..44515256	hg38	UCSC Ensembl
Outer	chr2:44568278..44742395	hg19	UCSC Ensembl
Outer	chr2:44421782..44595899	hg18	UCSC Ensembl
Outer	chr2:44479929..44654046	hg17	UCSC Ensembl

Cytoband

2p21

Allele length

Assembly	Allele length
hg38	174118
hg19	174118
hg18	174118
hg17	174118

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1441898, nssv1441897, nssv1441895

Samples

Known Genes

CAMKMT, PREPL

Method

BAC aCGH

Analysis

Experimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.

Platform

GPL2616

Comments

Reference

Wong_et_al_2007

Pubmed ID

17160897

Accession Number(s)

nsv833947

Frequency

Sample Size	95
Observed Gain	3
Observed Loss	0
Observed Complex	0
Frequency	n/a