dbVar for OMIM (Select 600225) - dbVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from OMIM

Items: 10

loading data ...

Number of Variants: 10

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5672657	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 55,332,039-55,369,387 , GRCh38.p12 chr14: 54,865,321-54,902,669	GCH1, FDPSP3, 1 more genes
nsv5672575	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 55,313,807-55,313,858 , GRCh38.p12 chr14: 54,847,089-54,847,140	GCH1
nsv5380970	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr14: 55,310,492-55,332,164 , GRCh38.p12 chr14: 54,843,774-54,865,446	RNU6ATAC9P, GCH1
nsv4682771	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 55,326,389-55,332,164 , GRCh38.p12 chr14: 54,859,671-54,865,446	GCH1, RNU6ATAC9P
nsv4682289	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 55,369,029-55,369,420 , GRCh38.p12 chr14: 54,902,311-54,902,702	GCH1
nsv4451216	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr14: 54,859,671-54,902,702 , GRCh37 chr14: 55,326,389-55,369,420	GCH1, RNU6ATAC9P, 2 more genes
nsv4449748	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr14: 55,332,035-55,332,164 , GRCh38 chr14: 54,865,317-54,865,446	GCH1
nsv3888255	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr14: 54,865,307-54,865,456 , GRCh37 chr14: 55,332,025-55,332,174	GCH1
nsv3884573	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr14: 54,902,301-54,902,683 , GRCh37 chr14: 55,369,019-55,369,401	GCH1
nsv2779221	copy number variation	1	nstd45	human	Pathogenic	GRCh38.p12 chr14: 54,842,005-54,902,824 , GRCh37 chr14: 55,308,723-55,369,542	FDPSP3, GCH1, 2 more genes

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Variation > Database of Genomic Structural Variation (dbVar)