Variant Details

Variant: nsv833435

Internal ID

16457304

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr17:38175829..38287521	hg38	UCSC Ensembl
Outer	chr17:36331881..36443494	hg19	UCSC Ensembl
Outer	chr17:33585687..33697018	hg18	UCSC Ensembl
Outer	chr17:33585687..33697018	hg17	UCSC Ensembl

Cytoband

17q12

Allele length

Assembly	Allele length
hg38	111693
hg19	111614
hg18	111332
hg17	111332

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1453376, nssv1453381, nssv1453370, nssv1453366, nssv1453380, nssv1453367, nssv1453365, nssv1453379, nssv1453375, nssv1453378, nssv1453364, nssv1453374, nssv1453368, nssv1453369, nssv1453377, nssv1453372, nssv1453382, nssv1453383, nssv1453373, nssv1453371

Samples

Known Genes

LOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H

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)

nsv833435

Frequency

Sample Size	95
Observed Gain	17
Observed Loss	3
Observed Complex	0
Frequency	n/a