Variant Details

Variant: nsv829660

Internal ID

16106843

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:40073032..40266408	hg38	UCSC Ensembl
Outer	chr1:40538704..40732080	hg19	UCSC Ensembl
Outer	chr1:40311291..40504667	hg18	UCSC Ensembl
Outer	chr1:40207797..40401173	hg17	UCSC Ensembl

Cytoband

1p34.2

Allele length

Assembly	Allele length
hg38	193377
hg19	193377
hg18	193377
hg17	193377

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1445062, nssv1444929, nssv1444773, nssv1445096, nssv1444795, nssv1445040, nssv1444996, nssv1444740, nssv1444751, nssv1444907, nssv1444940, nssv1444762, nssv1445118, nssv1444863, nssv1444717, nssv1445129, nssv1444695, nssv1445107, nssv1444963, nssv1444728, nssv1445085, nssv1445051, nssv1444852, nssv1444839, nssv1445074, nssv1445029, nssv1444896, nssv1444706, nssv1444985, nssv1444874, nssv1444806, nssv1445018, nssv1444974, nssv1445007, nssv1444828, nssv1444885, nssv1444784, nssv1444817, nssv1444918, nssv1444951

Samples

Known Genes

PPT1, RLF, TMCO2, ZMPSTE24

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)

nsv829660

Frequency

Sample Size	95
Observed Gain	3
Observed Loss	37
Observed Complex	0
Frequency	n/a