Variant Details

Variant: nsv442833

Internal ID

15501552

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:130036310..130065662	hg38	UCSC Ensembl
Inner	chr2:130793883..130823235	hg19	UCSC Ensembl
Inner	chr2:130510353..130539705	hg18	UCSC Ensembl
Inner	chr2:130510113..130539465	hg17	UCSC Ensembl

Cytoband

2q21.1

Allele length

Assembly	Allele length
hg38	29353
hg19	29353
hg18	29353
hg17	29353

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1622842, nssv1623187, nssv1622711, nssv1622402, nssv1622863, nssv1622788, nssv1622600, nssv1621695, nssv1622048, nssv1622593, nssv1622995, nssv1622607, nssv1622251, nssv1623110, nssv1623055, nssv1622505, nssv1622181, nssv1622003, nssv1622524, nssv1622142, nssv1622085, nssv1622810, nssv1622494, nssv1622372, nssv1621989, nssv1621679, nssv1621618, nssv1623244, nssv1621982, nssv1623275, nssv1621901, nssv1622331, nssv1621769, nssv1622551, nssv1622427, nssv1622204, nssv1623137, nssv1623202, nssv1621868, nssv1622902, nssv1622456, nssv1622056, nssv1621630, nssv1623191, nssv1621948, nssv1621684, nssv1621915, nssv1622413, nssv1623258, nssv1623100, nssv1622778, nssv1621954, nssv1622227, nssv1622347, nssv1622574, nssv1623144, nssv1622968, nssv1622956, nssv1622912, nssv1622691, nssv1622339, nssv1622908, nssv1621883, nssv1622353, nssv1623134, nssv1622835, nssv1622623, nssv1622091, nssv1622927, nssv1622765, nssv1622377, nssv1621979, nssv1622498, nssv1621815, nssv1622040, nssv1622579, nssv1621895, nssv1622716, nssv1621990, nssv1621776, nssv1622864, nssv1621624, nssv1622688, nssv1622367, nssv1621781, nssv1622228, nssv1621713, nssv1622336, nssv1621800, nssv1622900, nssv1622191, nssv1622283, nssv1622099, nssv1622967, nssv1623018, nssv1622889, nssv1622242, nssv1622096, nssv1622144, nssv1622180, nssv1623014, nssv1622928, nssv1621638, nssv1622664, nssv1621791, nssv1622209, nssv1622753, nssv1622152, nssv1623005, nssv1621903, nssv1622362, nssv1621708, nssv1621657, nssv1622834, nssv1621835, nssv1622195, nssv1621869, nssv1621709, nssv1623149, nssv1622564, nssv1622065, nssv1621906, nssv1621843, nssv1621877, nssv1623116, nssv1622483, nssv1622286, nssv1622943, nssv1622615, nssv1622610, nssv1623064, nssv1621797, nssv1622314, nssv1621775, nssv1623250, nssv1622342, nssv1622205, nssv1622734, nssv1623148, nssv1623224, nssv1622703, nssv1622642, nssv1622878, nssv1622179, nssv1621622, nssv1622486, nssv1622035, nssv1621900, nssv1622263, nssv1623157, nssv1622013, nssv1622677, nssv1623123, nssv1622739, nssv1621647, nssv1622714, nssv1622796, nssv1621980, nssv1621878, nssv1622134, nssv1622098, nssv1622382, nssv1622946, nssv1623082, nssv1622338, nssv1621966, nssv1623253, nssv1622518, nssv1621786, nssv1622801, nssv1622102, nssv1622264, nssv1623050, nssv1623232, nssv1622309, nssv1623242, nssv1623086, nssv1622033, nssv1622752, nssv1622802, nssv1622602, nssv1622735, nssv1623223, nssv1623210, nssv1623140, nssv1622725, nssv1622489, nssv1621864, nssv1622158, nssv1623034, nssv1622654, nssv1623274, nssv1622512, nssv1621816, nssv1622874, nssv1622745, nssv1622743, nssv1622162, nssv1621902, nssv1622686, nssv1622439, nssv1621745, nssv1621623, nssv1621983, nssv1622408, nssv1623196, nssv1623147, nssv1623091, nssv1623161, nssv1623077, nssv1622049

Samples

NA18998, NA18502, NA12717, NA11830, NA19203, NA18621, NA18947, NA11995, NA11829, NA19204, NA18861, NA12814, NA18524, NA18980, NA18855, NA18561, NA18507, NA18999, NA18603, NA19092, NA12751, NA18545, NA07029, NA12004, NA12801, NA12248, NA12146, NA18959, NA12865, NA10857, NA18526, NA18633, NA12750, NA12155, NA12813, NA18967, NA18563, NA19127, NA19192, NA19171, NA19005, NA18944, NA18940, NA19201, NA10835, NA10846, NA18995, NA10854, NA12802, NA19119, NA18635, NA18860, NA12891, NA18558, NA18960, NA18942, NA07048, NA18582, NA18571, NA12762, NA19138, NA18964, NA06993, NA19130, NA18949, NA12761, NA07019, NA12156, NA19137, NA19238, NA12044, NA11994, NA19207, NA19172, NA19128, NA12815, NA19159, NA18990, NA10855, NA19239, NA18975, NA18973, NA19200, NA11993, NA11831, NA18951, NA18605, NA12752, NA19120, NA07022, NA19194, NA12753, NA12003, NA10863, NA10831, NA19152, NA12878, NA19161, NA18956, NA18859, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18579, NA19103, NA18572, NA18976, NA18948, NA18503, NA11839, NA10838, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA19000, NA11840, NA18856, NA12249, NA12056, NA18912, NA12892, NA19154, NA18532, NA12239, NA18853, NA12264, NA12145, NA19099, NA12707, NA19101, NA18555, NA06985, NA18523, NA19160, NA10856, NA18570, NA18858, NA18593, NA18945, NA19012, NA18576, NA12043, NA18608, NA19003, NA18914, NA18632, NA11882, NA19206, NA18542, NA06991, NA12716, NA11881, NA18961, NA18952, NA18517, NA12864, NA18863, NA18540, NA18564, NA12057, NA10859, NA18913, NA19240, NA12873, NA19144, NA18992, NA10861, NA18943, NA19193, NA12874, NA07055, NA18594, NA12740, NA06994, NA18971, NA19223, NA19173, NA18994, NA18521, NA18500, NA18506, NA19102, NA18854, NA19116, NA18552, NA18852, NA07056, NA19129, NA18968, NA18624, NA19139, NA12006, NA18623, NA07000, NA18522, NA12154, NA18612, NA18622, NA19153, NA18965, NA18577, NA11832, NA18620, NA18997

Known Genes

FAR2P1

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)

nsv442833

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	211
Observed Complex	0
Frequency	n/a