Variant Details

Variant: nsv471647

Internal ID

15214466

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:149871100..150112638	hg38	UCSC Ensembl
Inner	chr7:149568189..149809727	hg19	UCSC Ensembl
Inner	chr7:149199122..149440660	hg18	UCSC Ensembl
Inner	chr7:148959930..149201468	hg16	UCSC Ensembl

Cytoband

7q36.1

Allele length

Assembly	Allele length
hg38	241539
hg19	241539
hg18	241539
hg16	241539

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv550528, nssv550534, nssv550533, nssv550527

Samples

NA17058, NA17015

Known Genes

ATP6V0E2, ATP6V0E2-AS1

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)

nsv471647

Frequency

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