Variant Details

Variant: nsv8768

Internal ID

15499994

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:12786012..13382061	hg38	UCSC Ensembl
Outer	chr1:12846155..13517588	hg19	UCSC Ensembl
Outer	chr1:12768742..13390175	hg18	UCSC Ensembl
Outer	chr1:12780421..13262894	hg17	UCSC Ensembl

Cytoband

1p36.21

Allele length

Assembly	Allele length
hg38	596050
hg19	671434
hg18	621434
hg17	482474

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv28056, nssv28937, nssv28553, nssv13099, nssv29271, nssv28927, nssv24622, nssv28948, nssv11771, nssv28555, nssv28540, nssv29266, nssv13769, nssv28550, nssv28936, nssv12426, nssv29275, nssv26880, nssv29268, nssv28033, nssv13429, nssv13084, nssv11781, nssv12103, nssv13423, nssv12769, nssv29277, nssv28053, nssv29263, nssv29261, nssv24616, nssv14099, nssv28040, nssv13753, nssv12121, nssv29265, nssv12094, nssv28932, nssv11766, nssv29256, nssv11770, nssv13433, nssv12105, nssv12101, nssv11772, nssv28047, nssv11782, nssv12435, nssv28931, nssv28556, nssv29274, nssv12112, nssv11775, nssv11764, nssv29253, nssv11780, nssv29262, nssv28920, nssv28546, nssv13744, nssv11762, nssv12433, nssv13093, nssv14074, nssv28049, nssv28544, nssv26895, nssv11790, nssv28944, nssv28545, nssv11774, nssv28943, nssv29269, nssv28547, nssv24599, nssv12096, nssv29249, nssv28938, nssv12424, nssv28560, nssv12780, nssv14753, nssv28032, nssv12429, nssv28923, nssv26878, nssv28933, nssv28050, nssv24598, nssv28559, nssv12439, nssv12754, nssv28549, nssv12767, nssv26890, nssv13098, nssv11791, nssv29278, nssv29259, nssv13414, nssv12109, nssv12107, nssv29264, nssv28941, nssv12779, nssv11769, nssv28036, nssv28039, nssv21427, nssv12111, nssv28934, nssv21451, nssv14083, nssv12120, nssv26904, nssv26897, nssv28042, nssv12768, nssv12099, nssv26898, nssv28051, nssv14423, nssv26881, nssv29257, nssv28939, nssv28551, nssv13103, nssv11763, nssv11779, nssv12763, nssv12108, nssv12092, nssv12422, nssv26899, nssv28945, nssv28041, nssv29250, nssv11783, nssv28929, nssv12450, nssv28554, nssv26901, nssv12765, nssv13109, nssv13763, nssv13428, nssv12093, nssv26891, nssv11776, nssv28919, nssv12752, nssv28539, nssv12773, nssv28043, nssv15113, nssv13439, nssv12441, nssv28947, nssv29267, nssv28543, nssv11777, nssv12438, nssv28531, nssv14093, nssv12113, nssv28935, nssv28928, nssv29258, nssv28557, nssv14429, nssv26883, nssv28541, nssv28035, nssv12443, nssv12437, nssv11778

Samples

NA18502, NA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173, NA18972, NA18552

Known Genes

HNRNPCL1, HNRNPCP5, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF23, PRAMEF3, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9

Method

Oligo aCGH

Analysis

Statistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2

Platform

Agilent-015686 Custom Human 244K CGH Microarray

Comments

Reference

Perry_et_al_2008

Pubmed ID

18304495

Accession Number(s)

nsv8768

Frequency

Sample Size	31
Observed Gain	30
Observed Loss	19
Observed Complex	0
Frequency	n/a