Variant Details

Variant: nsv442771

Internal ID

15501490

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:51639362..51644944	hg38	UCSC Ensembl
Inner	chr19:52142615..52148197	hg19	UCSC Ensembl
Inner	chr19:56834427..56840009	hg18	UCSC Ensembl
Inner	chr19:56834427..56840009	hg17	UCSC Ensembl

Cytoband

19q13.33

Allele length

Assembly	Allele length
hg38	5583
hg19	5583
hg18	5583
hg17	5583

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1652797, nssv1652660, nssv1652657, nssv1652747, nssv1652704, nssv1652771, nssv1652694, nssv1652656, nssv1652691, nssv1652670, nssv1652696, nssv1652682, nssv1652671, nssv1652768, nssv1652655, nssv1652801, nssv1652693, nssv1652695, nssv1652674, nssv1652709, nssv1652781, nssv1652737, nssv1652793, nssv1652802, nssv1652769, nssv1652745, nssv1652708, nssv1652776, nssv1652719, nssv1652702, nssv1652697, nssv1652716, nssv1652699, nssv1652698, nssv1652687, nssv1652756, nssv1652690, nssv1652662, nssv1652785, nssv1652714, nssv1652658, nssv1652753, nssv1652688, nssv1652723, nssv1652711, nssv1652685, nssv1652701, nssv1652659, nssv1652672, nssv1652755, nssv1652678, nssv1652788, nssv1652731, nssv1652706, nssv1652796, nssv1652732, nssv1652703, nssv1652733, nssv1652726, nssv1652758, nssv1652679, nssv1652782, nssv1652718, nssv1652686, nssv1652668, nssv1652780, nssv1652676, nssv1652798, nssv1652754, nssv1652673, nssv1652730, nssv1652741, nssv1652681, nssv1652787, nssv1652804, nssv1652775, nssv1652789, nssv1652729, nssv1652779, nssv1652661, nssv1652717, nssv1652680, nssv1652677, nssv1652795, nssv1652724, nssv1652663, nssv1652707, nssv1652783, nssv1652759, nssv1652751, nssv1652666, nssv1652735, nssv1652736, nssv1652738, nssv1652757, nssv1652684, nssv1652752, nssv1652715, nssv1652772, nssv1652705, nssv1652700, nssv1652750, nssv1652720, nssv1652791, nssv1652786, nssv1652773, nssv1652749, nssv1652713, nssv1652722, nssv1652763, nssv1652734, nssv1652761, nssv1652790, nssv1652743, nssv1652778, nssv1652799, nssv1652725, nssv1652746, nssv1652744, nssv1652774, nssv1652760, nssv1652667, nssv1652800, nssv1652675, nssv1652739, nssv1652748, nssv1652664, nssv1652766, nssv1652765, nssv1652669, nssv1652728, nssv1652654, nssv1652777, nssv1652803, nssv1652689, nssv1652794, nssv1652727, nssv1652764, nssv1652770, nssv1652742, nssv1652792, nssv1652784, nssv1652712, nssv1652683, nssv1652767, nssv1652721, nssv1652740, nssv1652665, nssv1652710, nssv1652762, nssv1652692

Samples

NA18998, NA19141, NA18621, NA18947, NA11995, NA19204, NA18862, NA18592, NA12814, NA18524, NA18980, NA18561, NA18507, NA18603, NA19092, NA12751, NA18545, NA07029, NA12801, NA18959, NA18526, NA18633, NA12750, NA12155, NA18967, NA18563, NA19127, NA19005, NA18944, NA18940, NA12812, NA19201, NA12802, NA18635, NA18860, NA12891, NA18558, NA18547, NA19131, NA18960, NA18942, NA11992, NA18582, NA18571, NA12762, NA19138, NA18964, NA19130, NA18949, NA18611, NA18970, NA07019, NA19137, NA19238, NA19207, NA19172, NA19128, NA12815, NA19159, NA18990, NA19239, NA19209, NA18975, NA19007, NA18951, NA18605, NA19210, NA19120, NA07022, NA12753, NA19152, NA12878, NA19161, NA18956, NA18859, NA18991, NA18529, NA18637, NA18579, NA18871, NA19103, NA18572, NA18976, NA18503, NA18537, NA18566, NA18573, NA19000, NA18912, NA18532, NA12145, NA19099, NA18555, NA06985, NA19160, NA19132, NA18570, NA18593, NA18945, NA19012, NA18974, NA12043, NA18608, NA18953, NA19094, NA19003, NA18978, NA18914, NA18632, NA11882, NA19206, NA18542, NA11881, NA18952, NA18540, NA18564, NA10859, NA18913, NA19100, NA18992, NA18943, NA19193, NA18594, NA12740, NA06994, NA18971, NA19173, NA18987, NA18994, NA18636, NA18609, NA18506, NA19102, NA18854, NA18972, NA18872, NA18852, NA18505, NA19129, NA18968, NA18624, NA19139, NA18623, NA18522, NA12154, NA18612, NA18622, NA18562, NA18965, NA18620, NA18997

Known Genes

SIGLEC14

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)

nsv442771

Frequency

Sample Size	270
Observed Gain	8
Observed Loss	143
Observed Complex	0
Frequency	n/a