Variant Details

Variant: nsv442724

Internal ID

15154757

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:55808470..55828798	hg38	UCSC Ensembl
Inner	chr16:55842382..55862710	hg19	UCSC Ensembl
Inner	chr16:54399883..54420211	hg18	UCSC Ensembl
Inner	chr16:54399883..54420211	hg17	UCSC Ensembl

Cytoband

16q12.2

Allele length

Assembly	Allele length
hg38	20329
hg19	20329
hg18	20329
hg17	20329

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1649543, nssv1649554, nssv1649545, nssv1649563, nssv1649522, nssv1649573, nssv1649514, nssv1649542, nssv1649558, nssv1649523, nssv1649581, nssv1649576, nssv1649575, nssv1649557, nssv1649577, nssv1649561, nssv1649548, nssv1649553, nssv1649560, nssv1649546, nssv1649516, nssv1649566, nssv1649533, nssv1649568, nssv1649518, nssv1649571, nssv1649567, nssv1649520, nssv1649564, nssv1649551, nssv1649538, nssv1649536, nssv1649586, nssv1649578, nssv1649528, nssv1649584, nssv1649517, nssv1649513, nssv1649572, nssv1649525, nssv1649535, nssv1649552, nssv1649530, nssv1649544, nssv1649583, nssv1649539, nssv1649580, nssv1649512, nssv1649537, nssv1649529, nssv1649534, nssv1649519, nssv1649556, nssv1649574, nssv1649531, nssv1649550, nssv1649579, nssv1649585, nssv1649524, nssv1649569, nssv1649582, nssv1649562, nssv1649587, nssv1649527, nssv1649559, nssv1649532, nssv1649547, nssv1649515, nssv1649588, nssv1649521, nssv1649526, nssv1649555, nssv1649565, nssv1649541, nssv1649540, nssv1649549, nssv1649570

Samples

NA18998, NA19222, NA11830, NA18621, NA18947, NA11995, NA18592, NA18980, NA18561, NA18999, NA18603, NA12248, NA12146, NA12750, NA12155, NA18967, NA18563, NA19005, NA10835, NA18635, NA18547, NA18960, NA18942, NA07048, NA18571, NA12762, NA06993, NA18949, NA12005, NA18970, NA12044, NA18966, NA18990, NA10855, NA10839, NA18973, NA12760, NA10863, NA18515, NA18991, NA18529, NA18637, NA18579, NA18572, NA18976, NA12234, NA18537, NA18566, NA18573, NA12249, NA18532, NA12145, NA07345, NA06985, NA10856, NA18593, NA19012, NA18974, NA18608, NA18978, NA06991, NA18961, NA18517, NA18540, NA18564, NA18943, NA07055, NA18636, NA18609, NA18972, NA19129, NA18968, NA18622, NA18562, NA18965, NA11832, NA18620

Known Genes

CES1

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)

nsv442724

Frequency

Sample Size	270
Observed Gain	77
Observed Loss	0
Observed Complex	0
Frequency	n/a