Variant Details

Variant: dgv12343n54

Internal ID

22780238

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr8:136651246..136877923	hg38	UCSC Ensembl
	chr8:137663489..137890166	hg19	UCSC Ensembl
	chr8:137732671..137959348	hg18	UCSC Ensembl

Cytoband

8q24.23

Allele length

Assembly	Allele length
hg38	226678
hg19	226678
hg18	226678

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nsv612363, nsv612387, nsv612392, nsv612391, nsv612360, nsv612403, nsv612367, nsv612434, nsv612411, nsv612400, nsv612375, nsv612366, nsv612421, nsv612422, nsv612389, nsv612378, nsv612424, nsv612386, nsv612390, nsv612409, nsv612425, nsv612431, nsv612406, nsv612362, nsv612410, nsv612383, nsv612399, nsv612419, nsv612371, nsv612368, nsv612395, nsv612429, nsv612380, nsv612393, nsv612432, nsv612361, nsv612402, nsv612401, nsv612430, nsv612374, nsv612397, nsv612433, nsv612394, nsv612423, nsv612382, nsv612373, nsv612398, nsv612372, nsv612404, nsv612377, nsv612379, nsv612405, nsv612388, nsv612407, nsv612359, nsv612396, nsv612417, nsv612376, nsv612381, nsv612418, nsv612420, nsv612427, nsv612408, nsv612428

Samples

NINDS_13, 1780862274_A, HGDP00003, 1782681096_A, 1798860361_A, HGDP00892, NINDS_82, 1780862452_A, HGDP00279, 1780854095_A, HGDP00259, 1780854129_A, HGDP00141, HGDP00072, 1782681217_A, NINDS_14, 1780854455_A, HGDP00150, 1780854334_A, HGDP00076, 1780862227_A, 1798860594_A, 1780862101_A, NINDS_240, HGDP00518, HGDP01075, 1782681317_A, HGDP00670, HGDP00622, HGDP00037, HGDP01386, 1780862002_A, HGDP00584, HGDP00667, HGDP00564, HGDP00155, 1780854566_A, NINDS_136, HGDP00330, HGDP00338

Known Genes

Method

SNP array

Analysis

Illumina SNP array copy number analysis

Platform

Not reported

Comments

Reference

Cooper_et_al_2011

Pubmed ID

21841781

Accession Number(s)

dgv12343n54

Frequency

Sample Size	17421
Observed Gain	0
Observed Loss	259
Observed Complex	0
Frequency	n/a