Variant Details

Variant: nsv428188

Internal ID

18277952

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:143450682..144500577	hg38	UCSC Ensembl
Inner	chr7:143147775..144197670	hg19	UCSC Ensembl
Inner	chr7:142857897..143828603	hg18	UCSC Ensembl

Cytoband

7q35

Allele length

Assembly	Allele length
hg38	1049896
hg19	1049896
hg18	970707

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv451315, nssv451325, nssv451333, nssv451336, nssv451310, nssv451332, nssv451319, nssv451347, nssv451346, nssv451316, nssv451322, nssv451345, nssv451341, nssv451327, nssv451317, nssv451324, nssv451337, nssv451330, nssv451321, nssv451339, nssv451314, nssv451335, nssv451313, nssv451328, nssv451343, nssv451312, nssv451308, nssv451334, nssv451307, nssv451344, nssv451323, nssv451340, nssv451326, nssv451311, nssv451338, nssv451318, nssv451329

Samples

HGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, NA19189, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19181, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00472, HGDP00474, HGDP00471, HGDP00478, HGDP01086, HGDP00449

Known Genes

ARHGEF34P, ARHGEF35, ARHGEF5, CTAGE15, CTAGE4, CTAGE6, CTAGE8, EPHA1-AS1, FAM115A, FAM115C, LOC154761, NOBOX, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, OR2F1, OR2F2, OR6B1, RNU6-57P, TAS2R41, TPK1

Method

BAC aCGH

Analysis

Copy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).

Platform

Sanger H. sapiens Whole Genome Tile Path 28.7k v3

Comments

Reference

Perry_et_al_2008b

Pubmed ID

18775914

Accession Number(s)

nsv428188

Frequency

Sample Size	62
Observed Gain	14
Observed Loss	22
Observed Complex	0
Frequency	n/a