Variant Details

Variant: nsv442555

Internal ID

15501274

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:196761905..196832942	hg38	UCSC Ensembl
Inner	chr1:196731035..196802072	hg19	UCSC Ensembl
Inner	chr1:194997658..195068695	hg18	UCSC Ensembl
Inner	chr1:193462692..193533729	hg17	UCSC Ensembl

Cytoband

1q31.3

Allele length

Assembly	Allele length
hg38	71038
hg19	71038
hg18	71038
hg17	71038

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1619226, nssv1619293, nssv1619335, nssv1619247, nssv1619225, nssv1619295, nssv1619276, nssv1619329, nssv1619319, nssv1619238, nssv1619257, nssv1619316, nssv1619231, nssv1619337, nssv1619289, nssv1619230, nssv1619307, nssv1619297, nssv1619305, nssv1619283, nssv1619242, nssv1619262, nssv1619274, nssv1619253, nssv1619314, nssv1619254, nssv1619342, nssv1619324, nssv1619303, nssv1619332, nssv1619339, nssv1619311, nssv1619273, nssv1619326, nssv1619270, nssv1619269, nssv1619313, nssv1619320, nssv1619309, nssv1619344, nssv1619346, nssv1619223, nssv1619327, nssv1619304, nssv1619321, nssv1619310, nssv1619318, nssv1619246, nssv1619300, nssv1619244, nssv1619302, nssv1619298, nssv1619306, nssv1619275, nssv1619296, nssv1619291, nssv1619264, nssv1619228, nssv1619338, nssv1619325, nssv1619299, nssv1619267, nssv1619261, nssv1619284, nssv1619255, nssv1619334, nssv1619308, nssv1619245, nssv1619263, nssv1619235, nssv1619315, nssv1619229, nssv1619288, nssv1619333, nssv1619345, nssv1619292, nssv1619248, nssv1619237, nssv1619232, nssv1619240, nssv1619239, nssv1619317, nssv1619312, nssv1619294, nssv1619272, nssv1619249, nssv1619282, nssv1619278, nssv1619250, nssv1619336, nssv1619341, nssv1619331, nssv1619322, nssv1619260, nssv1619234, nssv1619266, nssv1619243, nssv1619330, nssv1619290, nssv1619285, nssv1619256, nssv1619251, nssv1619268, nssv1619233, nssv1619241, nssv1619277, nssv1619323, nssv1619279, nssv1619227, nssv1619271, nssv1619281, nssv1619265, nssv1619236, nssv1619343, nssv1619252, nssv1619340, nssv1619301, nssv1619328, nssv1619224, nssv1619286, nssv1619222, nssv1619259, nssv1619280, nssv1619287, nssv1619258

Samples

NA18502, NA19141, NA19222, NA19203, NA11829, NA18862, NA18861, NA18508, NA10851, NA12236, NA18507, NA19145, NA19092, NA18545, NA07029, NA18504, NA12865, NA10857, NA19098, NA18870, NA12155, NA12813, NA18563, NA19127, NA19192, NA19171, NA10835, NA10846, NA19119, NA19131, NA18942, NA19138, NA06993, NA19130, NA12761, NA12156, NA19137, NA12044, NA19207, NA19172, NA19128, NA19159, NA19239, NA19209, NA10839, NA19200, NA11993, NA19007, NA11831, NA19210, NA19120, NA19194, NA12753, NA19152, NA19161, NA18859, NA18515, NA18516, NA18871, NA19103, NA11839, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA19142, NA11840, NA10830, NA18856, NA12249, NA19154, NA18857, NA19099, NA18555, NA12144, NA18523, NA19132, NA18858, NA18608, NA19094, NA18978, NA11882, NA19206, NA06991, NA11881, NA18961, NA18517, NA18863, NA12057, NA10859, NA19140, NA19100, NA19144, NA19193, NA12763, NA19143, NA18501, NA06994, NA19223, NA19173, NA19211, NA18994, NA19093, NA10860, NA18521, NA18500, NA18506, NA19102, NA12875, NA18854, NA19116, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA19139, NA12006, NA18623, NA18522, NA11832, NA18997

Known Genes

CFHR1, CFHR3

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)

nsv442555

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	125
Observed Complex	0
Frequency	n/a