Variant Details

Variant: nsv8192

Internal ID

15499418

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr7:102450605..102692752	hg38	UCSC Ensembl
Outer	chr7:102091052..102333199	hg19	UCSC Ensembl
Outer	chr7:101878057..102120435	hg18	UCSC Ensembl
Outer	chr7:101684772..101927150	hg17	UCSC Ensembl

Cytoband

7q22.1

Allele length

Assembly	Allele length
hg38	242148
hg19	242148
hg18	242379
hg17	242379

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv16869, nssv16528, nssv17018, nssv14809, nssv17071, nssv16589, nssv18297, nssv16839, nssv19034, nssv19004, nssv16125, nssv16499, nssv18884, nssv15915, nssv16356, nssv16113, nssv17982, nssv16959, nssv18381, nssv14689, nssv16929, nssv16659, nssv14501, nssv19500, nssv16296, nssv16263, nssv18713, nssv16326, nssv16233, nssv16649, nssv15677, nssv15740, nssv18974, nssv15985, nssv14719, nssv16173, nssv14920, nssv15945, nssv16529, nssv18944, nssv16035, nssv16619, nssv16559, nssv16203, nssv18313, nssv18914, nssv16899, nssv16155, nssv18854, nssv16057, nssv16779, nssv16005, nssv14950, nssv14659, nssv16809, nssv16143, nssv16498, nssv16065, nssv15975, nssv16689, nssv18824, nssv18283, nssv16719, nssv18343, nssv15232

Samples

NA18502, NA11830, NA18980, NA18504, NA12155, NA18563, NA12802, NA18860, NA18942, NA07048, NA10863, NA12872, NA18572, NA19221, NA18537, NA18853, NA19132, NA18517, NA19240, NA19144, NA12740, NA19173, NA18972

Known Genes

ALKBH4, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL

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)

nsv8192

Frequency

Sample Size	31
Observed Gain	23
Observed Loss	0
Observed Complex	0
Frequency	n/a