Variant Details

Variant: nsv442738

Internal ID

15501457

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:18452078..18561907	hg38	UCSC Ensembl
Inner	chr17:18355392..18465221	hg19	UCSC Ensembl
Inner	chr17:18296117..18405946	hg18	UCSC Ensembl
Inner	chr17:18296117..18405946	hg17	UCSC Ensembl

Cytoband

17p11.2

Allele length

Assembly	Allele length
hg38	109830
hg19	109830
hg18	109830
hg17	109830

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1650498, nssv1650526, nssv1650569, nssv1650506, nssv1650489, nssv1650502, nssv1650552, nssv1650493, nssv1650495, nssv1650471, nssv1650510, nssv1650472, nssv1650532, nssv1650566, nssv1650496, nssv1650553, nssv1650542, nssv1650522, nssv1650509, nssv1650486, nssv1650541, nssv1650476, nssv1650447, nssv1650519, nssv1650511, nssv1650482, nssv1650545, nssv1650507, nssv1650455, nssv1650508, nssv1650456, nssv1650480, nssv1650525, nssv1650452, nssv1650539, nssv1650469, nssv1650458, nssv1650560, nssv1650478, nssv1650465, nssv1650473, nssv1650494, nssv1650463, nssv1650520, nssv1650503, nssv1650483, nssv1650453, nssv1650557, nssv1650563, nssv1650485, nssv1650479, nssv1650492, nssv1650501, nssv1650470, nssv1650555, nssv1650547, nssv1650538, nssv1650527, nssv1650484, nssv1650474, nssv1650460, nssv1650500, nssv1650568, nssv1650554, nssv1650530, nssv1650468, nssv1650491, nssv1650567, nssv1650512, nssv1650464, nssv1650561, nssv1650466, nssv1650513, nssv1650449, nssv1650487, nssv1650451, nssv1650546, nssv1650459, nssv1650514, nssv1650551, nssv1650523, nssv1650518, nssv1650517, nssv1650505, nssv1650528, nssv1650533, nssv1650497, nssv1650477, nssv1650461, nssv1650549, nssv1650537, nssv1650490, nssv1650556, nssv1650543, nssv1650564, nssv1650454, nssv1650531, nssv1650529, nssv1650475, nssv1650536, nssv1650544, nssv1650467, nssv1650540, nssv1650499, nssv1650559, nssv1650462, nssv1650562, nssv1650550, nssv1650457, nssv1650450, nssv1650565, nssv1650488, nssv1650515, nssv1650481, nssv1650524, nssv1650548, nssv1650448, nssv1650516, nssv1650521, nssv1650535, nssv1650558, nssv1650534, nssv1650504

Samples

NA18502, NA19141, NA12717, NA11830, NA18947, NA11995, NA11829, NA18592, NA12814, NA10851, NA18980, NA18561, NA18507, NA12751, NA07029, NA12004, NA12801, NA18504, NA12248, NA12146, NA18959, NA18870, NA18526, NA12750, NA18969, NA19192, NA19171, NA18944, NA12812, NA10835, NA10846, NA12802, NA19119, NA18860, NA12891, NA18960, NA06993, NA19130, NA18949, NA12761, NA18970, NA07019, NA12156, NA19137, NA11994, NA19128, NA18966, NA12815, NA10855, NA19239, NA19209, NA11993, NA11831, NA10847, NA18605, NA12760, NA12752, NA07022, NA19194, NA12753, NA12003, NA10831, NA19152, NA12878, NA18515, NA18991, NA18516, NA18579, NA19103, NA10838, NA12234, NA19208, NA19221, NA19000, NA11840, NA12249, NA12056, NA12239, NA12264, NA12145, NA19101, NA06985, NA19132, NA18576, NA12043, NA18608, NA18953, NA18978, NA18914, NA18632, NA11882, NA19206, NA06991, NA18952, NA18517, NA12864, NA12057, NA10859, NA19240, NA12873, NA19144, NA10861, NA12740, NA06994, NA18971, NA19223, NA19173, NA18987, NA10860, NA18521, NA18500, NA18506, NA19116, NA18972, NA19129, NA18968, NA19139, NA12006, NA18623, NA07000, NA18612, NA18622, NA11832

Known Genes

CCDC144B, FAM106A, LGALS9C, USP32P2

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)

nsv442738

Frequency

Sample Size	270
Observed Gain	55
Observed Loss	68
Observed Complex	0
Frequency	n/a