Variant Details

Variant: nsv471594

Internal ID

15214413

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:18076012..18882129	hg38	UCSC Ensembl
Inner	chr22:18558778..18869642	hg19	UCSC Ensembl
Inner	chr22:16938778..17249642	hg18	UCSC Ensembl
Inner	chr22:16933332..17244196	hg16	UCSC Ensembl

Cytoband

22q11.21

Allele length

Assembly	Allele length
hg38	806118
hg19	310865
hg18	310865
hg16	310865

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv550969, nssv549259, nssv549270, nssv550950, nssv549278, nssv550947, nssv550946, nssv549257, nssv549267, nssv550955, nssv550958, nssv550964, nssv550968, nssv550970, nssv550966, nssv549275, nssv549276, nssv550952, nssv550941, nssv550972, nssv549277, nssv549264, nssv550944, nssv550948, nssv549260, nssv549262, nssv549273, nssv549268, nssv549266, nssv550961, nssv550962, nssv549274, nssv550959, nssv549279, nssv550945, nssv549265, nssv549272, nssv549271, nssv550953, nssv549269, nssv549281, nssv550957, nssv549258, nssv550956, nssv550943, nssv550949, nssv549254, nssv549255, nssv550942, nssv549263, nssv549256, nssv549284, nssv550965, nssv549252, nssv550960, nssv549282, nssv550973, nssv549280, nssv550954, nssv550951, nssv550963, nssv549283, nssv550971, nssv550967, nssv549253

Samples

NA10971, NA15732, NA10469, JK776, P86GA, NA16689, NA17059, NA17058, NA10473, NA10496, NA17015, NA10492, NA15728, NA15727, NA15725, NA15733, NA15726, NA17020, NA15731, NA17052, NA10979, NA11523, NA10969, NA10471, NA15724, NA17016, NA10967, NA10976, NA10494, NA17017, NA17051, NA17014, NA15730, NA16688, NA10493, NA10970, NA11323

Known Genes

GGT3P, PEX26, TUBA8, USP18

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)

nsv471594

Frequency

Sample Size	48
Observed Gain	2
Observed Loss	35
Observed Complex	0
Frequency	n/a