Charles' law - dbVar

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

Search results

loading data ...

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3874472	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 40,051,246-40,075,180 , GRCh37.p13 chrX: 39,910,499-39,934,433	BCOR
nsv3886591	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 40,053,065-40,054,474 , GRCh37 chrX: 39,912,318-39,913,727	BCOR
nsv997145	copy number variation	1	nstd45	human	Pathogenic	GRCh37 chrX: 44,732,421-44,971,857 , GRCh38.p12 chrX: 44,873,175-45,112,612	KDM6A
nsv997200	copy number variation	1	nstd45	human	Pathogenic	GRCh38.p12 chr12: 114,353,930-114,408,442 , GRCh37 chr12: 114,791,735-114,846,247	TBX5, TBX5-AS1
nsv997133	copy number variation	1	nstd45	human	Pathogenic	GRCh37 chrX: 39,910,499-40,036,582 , GRCh38.p12 chrX: 40,051,246-40,177,329	BCOR, LOC105373181, 1 more genes