A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1012751

Internal ID

19101968

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:89896137..90228225	hg38	UCSC Ensembl
Inner	chr2:89934947..90267091	hg19	UCSC Ensembl
Inner	chr2:89571989..89904396	hg18	UCSC Ensembl

Cytoband

2p11.2

Allele length

Assembly	Allele length
hg38	332089
hg19	332145
hg18	332408

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3580332, nssv3731249, nssv3730114, nssv3730111, nssv3579924, nssv3579906, nssv3579894, nssv3579856, nssv3579872, nssv3580333, nssv3730100, nssv3580307, nssv3579892, nssv3579853, nssv3579860, nssv3731236, nssv3579904, nssv3731241, nssv3730102, nssv3580313, nssv3579871, nssv3579923, nssv3730099, nssv3730125, nssv3579861, nssv3579863, nssv3579847, nssv3579875, nssv3731240, nssv3579870, nssv3579865, nssv3579913, nssv3731253, nssv3580315, nssv3730104, nssv3579842, nssv3580322, nssv3579905, nssv3730109, nssv3579840, nssv3580312, nssv3579920, nssv3579868, nssv3730101, nssv3579862, nssv3731254, nssv3731252, nssv3579851, nssv3731248, nssv3730113, nssv3579891, nssv3579867, nssv3731235, nssv3580324, nssv3730116, nssv3731255, nssv3730103, nssv3579846, nssv3579898, nssv3579893, nssv3730122, nssv3579850, nssv3579908, nssv3579845, nssv3579910, nssv3579889, nssv3579841, nssv3579900, nssv3579899, nssv3580318, nssv3731233, nssv3579921, nssv3579879, nssv3580345, nssv3579855, nssv3731250, nssv3579897, nssv3579859, nssv3579876, nssv3580302, nssv3579858, nssv3730108, nssv3730105, nssv3580303, nssv3579854, nssv3731246, nssv3580301, nssv3580346, nssv3580338, nssv3580347, nssv3730124, nssv3580316, nssv3730107, nssv3580314, nssv3580319, nssv3579922, nssv3579917, nssv3730118, nssv3730115, nssv3580335, nssv3579912, nssv3579849, nssv3731237, nssv3579930, nssv3579927, nssv3730110, nssv3579852, nssv3580344, nssv3579839, nssv3580317, nssv3731234, nssv3580337, nssv3579925, nssv3579843, nssv3579885, nssv3579877, nssv3579931, nssv3579873, nssv3579928, nssv3580341, nssv3579857, nssv3580342, nssv3580305, nssv3579901, nssv3579866, nssv3730123, nssv3579882, nssv3579926, nssv3580323, nssv3731244, nssv3579895, nssv3579911, nssv3580304, nssv3579878, nssv3580309, nssv3579907, nssv3580340, nssv3580327, nssv3579896, nssv3579886, nssv3731251, nssv3580326, nssv3580306, nssv3579883, nssv3579881, nssv3730112, nssv3579919, nssv3579915, nssv3580320, nssv3580331, nssv3579880, nssv3731245, nssv3579864, nssv3731247, nssv3730121, nssv3579903, nssv3579909, nssv3731239, nssv3579902, nssv3730119, nssv3580334, nssv3579929, nssv3579844, nssv3579848, nssv3580325, nssv3579890, nssv3580311, nssv3731238, nssv3580310, nssv3580336, nssv3579916, nssv3579914, nssv3579887, nssv3579884, nssv3580343, nssv3580329, nssv3731242, nssv3580348, nssv3730117, nssv3579918, nssv3580330, nssv3579869, nssv3580339, nssv3580328, nssv3730106, nssv3579888, nssv3580308, nssv3579874, nssv3580321, nssv3730120, nssv3731243

Samples

Known Genes

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	11257
Observed Gain	7
Observed Loss	184
Observed Complex	0
Frequency	n/a