Variant Details

Variant: nsv545470

Internal ID

16332879

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:12800601..12854043	hg38	UCSC Ensembl
Inner	chr1:12860749..12913896	hg19	UCSC Ensembl
Inner	chr1:12783336..12836483	hg18	UCSC Ensembl

Cytoband

1p36.21

Allele length

Assembly	Allele length
hg38	53443
hg19	53148
hg18	53148

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv123n54

Supporting Variants

nssv710067, nssv1173723, nssv710057, nssv1173695, nssv710063, nssv1173707, nssv710070, nssv1173715, nssv1173718, nssv710068, nssv1173692, nssv710064, nssv710061, nssv1173722, nssv710056, nssv1173698, nssv1173701, nssv1173708, nssv710071, nssv1173712, nssv1173704, nssv1173725, nssv1173693, nssv710066, nssv1173724, nssv710062, nssv1173726, nssv1173727, nssv1173717, nssv1173700, nssv1173720, nssv710065, nssv1173714, nssv1173728, nssv1173696, nssv1173721, nssv1173719, nssv710059, nssv1173703, nssv1173710, nssv1173706, nssv1173713, nssv1173716, nssv710069, nssv710060, nssv1173699, nssv710058, nssv1173705, nssv1173694, nssv1173709, nssv1173702, nssv1173697, nssv1173711

Samples

NINDS_266, NINDS_219, NINDS_182, HGDP00856, HGDP01399, NINDS_70, HGDP00560, HGDP00945, NINDS_253, HGDP00072, HGDP01372, NINDS_208, NINDS_109, HGDP01103, NINDS_83, 1780854260_A, NINDS_240, HGDP01306, NINDS_50, HGDP00950, 1782681216_A, 1780854261_A, NINDS_198, 1798860565_A, NINDS_117, HGDP00751, 1780862085_A, HGDP00572, NINDS_134, 1780846321_A, NINDS_27, HGDP00714, NINDS_258, 1780854362_A, 1780854128_A, HGDP01317, HGDP01251

Known Genes

HNRNPCL1, LOC649330, PRAMEF11

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)

nsv545470

Frequency

Sample Size	17421
Observed Gain	22
Observed Loss	31
Observed Complex	0
Frequency	n/a