A curated catalogue of human genomic structural variation

 

 

Browser Select Tracks Custom Tracks Preferences

 Search

 Search

Landmark or Region: Examples: chr7:71890181..72690180, CFTR, AC108171.3, nsv529033.	Download Decorated FASTA File filter Variants
Data Source Genomic Variants in Human Genome (Build 36: Mar. 2006, hg18) Genomic Variants in Human Genome (Build GRCh37: Feb. 2009, hg19) Genomic Variants in Human Genome (Build GRCh38: Dec. 2013, hg38)

 Filter variants

studyvariant accessionvariant sub typevariant type

= ~

<< Back to Browser Show Favorites Only Clear All Favorites

 Tracks

 Tracks

 

 Breakpoints

 Breakpoints

 All on All off 

Breakpoint annotations from Lam et al (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?]

Annotations from Conrad et al [?]

Breakpoint annotations from Pang 2012 (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?]

 CGH Arrays

 CGH Arrays

 All on All off 

Agilent 244k [?]

Clones on SMRT BAC Array [?]

 CN Assays

 CN Assays

 All on All off 

Life Technologies TaqMan Copy Number Assays [?]

 Chromosome

 Chromosome

 All on All off 

Cytogenetic Bands [?]

Assembly [?]

Gap [?]

 Clones

 Clones

 All on All off 

BAC End Pairs [?]

Fosmid End Pairs [?]

 Disease

 Disease

 All on All off 

ISCA Curated clinically relevant regions [?]	Disease Genes (OMIM) [?]	DECIPHER: Chromosomal Imbalance and Phenotype in Humans (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?]
ISCA Clinical cytogenetic testing (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?]	DECIPHER Genomic Disorders [?]

 Gene

 Gene

 All on All off 

RefSeq Genes [?]

mRNA [?]

microRNA [?]

 General

 General

 All on All off 

Personal Genome Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?]	SNPs [?]
dbRIP [?]	RepeatMasker [?]

 SNP Arrays

 SNP Arrays

 All on All off 

AFFY SNP Array 5.0 [?]	ILMN HumanHap 300 [?]	ILMN HumanHap 650Y [?]
AFFY SNP Array 6.0 [?]	ILMN HumanHap 550 [?]	ILMN Human 660W [?]
AFFY CytoScan HD [?]	ILMN Human 610 Quad [?]	ILMN HumanHap 1M [?]

 Segmental Duplications

 Segmental Duplications

 All on All off 

UCSC segmental duplications [?]

 Study Variants

 Study Variants

 All on All off 

DGV Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?]	Unannotated Studies (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?]	DGV Gold Standard Variants (blue=Gain; red=Loss; brown=Gain+Loss) [?]
Supporting Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inverison;Black:Unknown) [?]	Nat. Rev. Gen. CNV Map - Inclusive (blue=Gain; red=Loss; brown=Gain+Loss) [?]	OPGP Affymetrix CytoHD Variants (blue=Gain; red=Loss; solidbox=AFFY_FILTER; solidline=MULTI_ALGO; dashedline=ONLY_CHAS) [?]
DGV Version 1 Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?]	Nat. Rev. Gen. CNV Map - Stringent (blue=Gain; red=Loss; brown=Gain+Loss) [?]

 Overview

 Overview

 All on All off 

Chromosome (overview)

Custom Tracks

[Help with uploading custom tracks]

There are no tracks yet.

Add custom tracks : [From text] [From a URL] [From a file]

Show grid	Image Width 600 760 980 1240	Highlight feature(s) (feature1 feature2...) Clear highlighting
Cache tracks		Highlight regions (region1:start..end region2:start..end) Clear highlighting
Show tooltips		Region Size (bp) 200000 20000 10000 5000 1000

For questions about the data at this site, please contact us