Variant Details

Variant: nsv442887

Internal ID

15501606

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:189645889..189646849	hg38	UCSC Ensembl
Inner	chr3:189363678..189364638	hg19	UCSC Ensembl
Inner	chr3:190846372..190847332	hg18	UCSC Ensembl
Inner	chr3:190846380..190847340	hg17	UCSC Ensembl

Cytoband

3q28

Allele length

Assembly	Allele length
hg38	961
hg19	961
hg18	961
hg17	961

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1624520, nssv1624466, nssv1624492, nssv1624536, nssv1624511, nssv1624463, nssv1624554, nssv1624515, nssv1624485, nssv1624539, nssv1624493, nssv1624543, nssv1624521, nssv1624460, nssv1624548, nssv1624475, nssv1624542, nssv1624504, nssv1624498, nssv1624491, nssv1624468, nssv1624547, nssv1624545, nssv1624514, nssv1624472, nssv1624496, nssv1624465, nssv1624470, nssv1624500, nssv1624524, nssv1624529, nssv1624551, nssv1624519, nssv1624487, nssv1624474, nssv1624527, nssv1624535, nssv1624517, nssv1624541, nssv1624538, nssv1624494, nssv1624477, nssv1624523, nssv1624516, nssv1624513, nssv1624478, nssv1624476, nssv1624508, nssv1624488, nssv1624555, nssv1624528, nssv1624469, nssv1624525, nssv1624549, nssv1624464, nssv1624540, nssv1624503, nssv1624544, nssv1624490, nssv1624482, nssv1624533, nssv1624530, nssv1624502, nssv1624537, nssv1624509, nssv1624483, nssv1624556, nssv1624501, nssv1624507, nssv1624510, nssv1624550, nssv1624497, nssv1624471, nssv1624522, nssv1624534, nssv1624546, nssv1624473, nssv1624467, nssv1624462, nssv1624552, nssv1624495, nssv1624531, nssv1624532, nssv1624489, nssv1624499, nssv1624486, nssv1624506, nssv1624512, nssv1624484, nssv1624461, nssv1624518, nssv1624553, nssv1624505, nssv1624480, nssv1624526, nssv1624481, nssv1624479

Samples

NA18998, NA19141, NA18947, NA18592, NA18508, NA18561, NA18507, NA18999, NA18603, NA19092, NA18545, NA18504, NA18959, NA18526, NA18633, NA18969, NA18967, NA18563, NA19005, NA18944, NA18940, NA19201, NA18995, NA19119, NA18635, NA18558, NA18547, NA18942, NA18571, NA12762, NA19138, NA18949, NA18611, NA18970, NA19238, NA18990, NA19239, NA19209, NA18975, NA19210, NA12753, NA19152, NA19161, NA18529, NA18516, NA18637, NA18579, NA18976, NA18503, NA19221, NA18537, NA18566, NA18573, NA19142, NA19000, NA18856, NA12249, NA19154, NA18857, NA12264, NA19099, NA18555, NA19160, NA18570, NA19012, NA18974, NA18576, NA18608, NA18953, NA18978, NA18632, NA18961, NA18540, NA18564, NA12873, NA18992, NA18943, NA12763, NA18594, NA18501, NA19223, NA18987, NA19211, NA18994, NA18500, NA18609, NA18506, NA18854, NA18852, NA18505, NA18968, NA18623, NA18612, NA18622, NA19153, NA18620, NA18997

Known Genes

TP63

Method

SNP array

Analysis

We used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.

Platform

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

Comments

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442887

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	97
Observed Complex	0
Frequency	n/a