A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1053727

Internal ID

19142946

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:5766163..5788219	hg38	UCSC Ensembl
Inner	chr11:5787393..5809449	hg19	UCSC Ensembl
Inner	chr11:5743969..5766025	hg18	UCSC Ensembl

Cytoband

11p15.4

Allele length

Assembly	Allele length
hg38	22057
hg19	22057
hg18	22057

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3509239, nssv3507410, nssv3505701, nssv3707369, nssv3505242, nssv3508587, nssv3518771, nssv3514547, nssv3518255, nssv3506937, nssv3504647, nssv3707376, nssv3506101, nssv3509989, nssv3517053, nssv3519304, nssv3514049, nssv3519591, nssv3506199, nssv3508327, nssv3514003, nssv3510566, nssv3517497, nssv3509314, nssv3511201, nssv3707378, nssv3504870, nssv3512628, nssv3707382, nssv3515244, nssv3707374, nssv3512498, nssv3517775, nssv3515807, nssv3707373, nssv3506810, nssv3513347, nssv3503591, nssv3521302, nssv3517725, nssv3514818, nssv3522717, nssv3508336, nssv3707372, nssv3517041, nssv3707379, nssv3518969, nssv3506186, nssv3707381, nssv3506462, nssv3520264, nssv3519151, nssv3505975, nssv3707380, nssv3512470, nssv3518739, nssv3515367, nssv3707371, nssv3505160, nssv3513723, nssv3707383, nssv3511033, nssv3707377, nssv3517776, nssv3518863, nssv3707370, nssv3514723, nssv3511243, nssv3507554, nssv3521365, nssv3517631, nssv3514268, nssv3504313, nssv3509802, nssv3512892, nssv3508857, nssv3707375, nssv3513136, nssv3504857, nssv3511299, nssv3520877, nssv3511154, nssv3508023, nssv3516869, nssv3506219

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	8
Observed Loss	77
Observed Complex	0
Frequency	n/a