Variant Details

Variant: nsv442712

Internal ID

15154745

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:18583078..18666789	hg38	UCSC Ensembl
Inner	chr16:18594400..18678111	hg19	UCSC Ensembl
Inner	chr16:18501901..18585612	hg18	UCSC Ensembl
Inner	chr16:18501901..18585612	hg17	UCSC Ensembl

Cytoband

16p12.3

Allele length

Assembly	Allele length
hg38	83712
hg19	83712
hg18	83712
hg17	83712

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1648453, nssv1648436, nssv1648443, nssv1648451, nssv1648447, nssv1648450, nssv1648427, nssv1648445, nssv1648423, nssv1648429, nssv1648432, nssv1648431, nssv1648444, nssv1648430, nssv1648448, nssv1648449, nssv1648446, nssv1648441, nssv1648428, nssv1648422, nssv1648454, nssv1648437, nssv1648452, nssv1648425, nssv1648442, nssv1648424, nssv1648433, nssv1648435, nssv1648438, nssv1648440, nssv1648426, nssv1648434, nssv1648439

Samples

NA11829, NA18592, NA18561, NA18603, NA12146, NA18633, NA07357, NA12812, NA18949, NA11994, NA10855, NA19209, NA10847, NA18976, NA11839, NA18537, NA12056, NA12145, NA18555, NA10856, NA18570, NA18974, NA18952, NA10861, NA07348, NA18501, NA18971, NA18987, NA19211, NA18994, NA18972, NA12006, NA18562

Known Genes

ABCC6P1

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)

nsv442712

Frequency

Sample Size	270
Observed Gain	25
Observed Loss	8
Observed Complex	0
Frequency	n/a