Variant Details

Variant: nsv830775

Internal ID

16454644

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr6:112856646..113064488	hg38	UCSC Ensembl
Outer	chr6:113177848..113385690	hg19	UCSC Ensembl
Outer	chr6:113284541..113492383	hg18	UCSC Ensembl
Outer	chr6:113284541..113492383	hg17	UCSC Ensembl

Cytoband

6q21

Allele length

Assembly	Allele length
hg38	207843
hg19	207843
hg18	207843
hg17	207843

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1445572, nssv1445590, nssv1445571, nssv1445594, nssv1445591, nssv1445574, nssv1445567, nssv1445592, nssv1445580, nssv1445578, nssv1445579, nssv1445585, nssv1445568, nssv1445587, nssv1445575, nssv1445586, nssv1445589, nssv1445576, nssv1445582, nssv1445593, nssv1445569, nssv1445577, nssv1445566, nssv1445581, nssv1445588, nssv1445596, nssv1445583, nssv1445570

Samples

Known Genes

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)

nsv830775

Frequency

Sample Size	95
Observed Gain	27
Observed Loss	1
Observed Complex	0
Frequency	n/a