Variant Details

Variant: nsv469518

Internal ID

15534233

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:195896851..196068603	hg38	UCSC Ensembl
Inner	chr3:195623722..195795474	hg19	UCSC Ensembl
Inner	chr3:197108119..197279871	hg18	UCSC Ensembl
Inner	chr3:196950243..197121995	hg16	UCSC Ensembl

Cytoband

3q29

Allele length

Assembly	Allele length
hg38	171753
hg19	171753
hg18	171753
hg16	171753

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1674956, nssv1674290, nssv1672183, nssv1672344, nssv1676613, nssv1675204, nssv1673072, nssv1672805, nssv1674151, nssv1674092, nssv1673510, nssv1675150, nssv1674578, nssv1675587, nssv1675534, nssv1674540, nssv1674274, nssv1672755, nssv1672790, nssv1676695, nssv1675682, nssv1673831, nssv1675696, nssv1673649, nssv1674722, nssv1672991, nssv1675683, nssv1675745, nssv1674399, nssv1674728, nssv1673464, nssv1672133, nssv1673662, nssv1676689, nssv1674710, nssv1672679, nssv1675668

Samples

Known Genes

SDHAP1, TFRC, TNK2

Method

BAC aCGH

Analysis

A locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.

Platform

GPL4010

Comments

Reference

Locke_et_al_2006

Pubmed ID

16826518

Accession Number(s)

nsv469518

Frequency

Sample Size	265
Observed Gain	10
Observed Loss	27
Observed Complex	0
Frequency	n/a