A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv580121

Internal ID

16367530

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:54052839..54057172	hg38	UCSC Ensembl
Inner	chr19:54556093..54560426	hg19	UCSC Ensembl
Inner	chr19:59247905..59252238	hg18	UCSC Ensembl

Cytoband

19q13.42

Allele length

Assembly	Allele length
hg38	4334
hg19	4334
hg18	4334

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv901233, nssv901300, nssv901248, nssv901261, nssv901247, nssv901218, nssv901283, nssv901279, nssv901254, nssv901266, nssv901278, nssv901243, nssv901209, nssv901302, nssv901276, nssv901271, nssv901227, nssv901230, nssv901292, nssv901260, nssv901303, nssv901211, nssv901228, nssv901284, nssv901224, nssv901246, nssv901264, nssv901212, nssv901210, nssv901241, nssv901219, nssv901229, nssv901270, nssv901244, nssv901299, nssv901256, nssv901216, nssv901235, nssv901221, nssv901240, nssv901259, nssv901222, nssv901262, nssv901258, nssv901223, nssv901290, nssv901269, nssv901242, nssv901287, nssv901295, nssv901208, nssv901251, nssv901293, nssv901253, nssv901282, nssv901298, nssv901268, nssv901225, nssv901275, nssv901231, nssv901301, nssv901281, nssv901245, nssv901291, nssv901239, nssv901294, nssv901232, nssv901238, nssv901215, nssv901267, nssv901274, nssv901280, nssv901285, nssv901252, nssv901214, nssv901237, nssv901217, nssv901234, nssv901288, nssv901272, nssv901277, nssv901273, nssv901249, nssv901213, nssv901263, nssv901289, nssv901207, nssv901250, nssv901236, nssv901265, nssv901297, nssv901226, nssv901255, nssv901220, nssv901296, nssv901257, nssv901286

Samples

Known Genes

Method

SNP array

Analysis

Illumina SNP array copy number analysis

Platform

Not reported

Comments

Reference

Cooper_et_al_2011

Pubmed ID

Accession Number(s)

Frequency

Sample Size	17421
Observed Gain	0
Observed Loss	97
Observed Complex	0
Frequency	n/a