A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1064013

Internal ID

18806544

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:46317034..46666626	hg38	UCSC Ensembl
Inner	chr17:44394400..44743992	hg19	UCSC Ensembl
Inner	chr17:41750175..42099176	hg18	UCSC Ensembl

Cytoband

17q21.31

Allele length

Assembly	Allele length
hg38	349593
hg19	349593
hg18	349002

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3566052, nssv3566825, nssv3566811, nssv3566824, nssv3563508, nssv3563511, nssv3566056, nssv3563506, nssv3566050, nssv3566055, nssv3566049, nssv3566810, nssv3566051, nssv3563514, nssv3566063, nssv3563490, nssv3566819, nssv3566832, nssv3563510, nssv3563485, nssv3566053, nssv3563512, nssv3566065, nssv3563499, nssv3725596, nssv3563488, nssv3563500, nssv3566805, nssv3563501, nssv3563503, nssv3566812, nssv3563502, nssv3566815, nssv3563496, nssv3566816, nssv3566823, nssv3566829, nssv3566808, nssv3563513, nssv3563491, nssv3566059, nssv3566831, nssv3566827, nssv3563507, nssv3566047, nssv3566834, nssv3563484, nssv3563489, nssv3566813, nssv3563498, nssv3566830, nssv3563504, nssv3566057, nssv3566062, nssv3566807, nssv3566833, nssv3566064, nssv3563509, nssv3563495, nssv3566826, nssv3566806, nssv3566048, nssv3566822, nssv3566828, nssv3566818, nssv3566066, nssv3566045, nssv3566054, nssv3563494, nssv3563505, nssv3563486, nssv3566820, nssv3566046, nssv3566814, nssv3563497, nssv3563487, nssv3566058, nssv3563493, nssv3563492, nssv3566061, nssv3566060, nssv3725597, nssv3566817, nssv3566809, nssv3566821

Samples

Known Genes

ARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1

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	29084
Observed Gain	18
Observed Loss	67
Observed Complex	0
Frequency	n/a