"nstd102"[study] AND "see ClinVar for details"[Origin] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv5672579	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 28,143,225-28,339,403 , GRCh38.p12 chr15\|NW_011332701.1: 32,366-228,556 , GRCh38.p12 chr15: 27,898,079-28,094,257 , GRCh38.p12 chr15\|NT_187660.1: 32,366-228,556	OCA2
nsv3894785	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 50,856,272-50,999,091 , NCBI36 chr2: 50,936,914-51,079,733 , GRCh37 chr2: 51,083,410-51,226,229	NRXN1
nsv3882710	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chrX: 18,443,725-18,528,974 , GRCh38 chrX: 18,425,605-18,510,854	CDKL5
nsv1398393	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 13,408,530-13,493,692 , NCBI36 chr19: 13,380,344-13,465,506 , GRCh37 chr19: 13,519,344-13,604,506	CACNA1A
nsv4685890	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 47,657,081-47,698,103 , GRCh38.p12 chr2: 47,429,942-47,470,964	MSH2
nsv1398490	copy number variation	2	nstd102	human	Pathogenic	GRCh38 chr22: 20,041,612-20,075,431 , GRCh37 chr22: 20,029,135-20,062,954	TANGO2
nsv3920070	copy number variation	2	nstd102	human	Pathogenic, Pathogenic/Likely pathogenic	GRCh37 chr7: 80,256,737-80,280,613 , NCBI36 chr7: 80,094,673-80,118,549 , GRCh38 chr7: 80,627,421-80,651,297	CD36
nsv3870481	copy number variation	4	nstd102	human	Pathogenic, not provided	GRCh37 chr7: 117,138,367-117,159,446 , GRCh38 chr7: 117,498,313-117,519,392	CFTR
nsv1398176	copy number variation	2	nstd102	human	Pathogenic	GRCh38 chr2: 47,402,369-47,422,413 , GRCh37 chr2: 47,629,508-47,649,552	MSH2
nsv1398513	copy number variation	3	nstd102	human	Pathogenic	GRCh37 chr17: 41,209,069-41,228,631 , GRCh38 chr17: 43,057,052-43,076,614	BRCA1
nsv3887539	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 41,197,694-41,215,349 , GRCh38 chr17: 43,045,677-43,063,332	BRCA1
nsv3882659	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,227,675-11,244,506 , GRCh38.p12 chr19: 11,116,999-11,133,830	LDLR
nsv3881383	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 22,033,124-22,047,049 , GRCh37 chrX: 22,051,242-22,065,167	PHEX
nsv1398538	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 47,630,263-47,643,568 , GRCh38 chr2: 47,403,124-47,416,429	MSH2
nsv4768309	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 102,840,516-102,851,686 , GRCh37.p13 chr12: 103,234,294-103,245,464	PAH
nsv3875884	copy number variation	2	nstd102	human	Pathogenic, Conflicting interpretations of pathogenicity	GRCh37 chr19: 11,227,675-11,238,683 , GRCh38.p12 chr19: 11,116,999-11,128,007	LDLR
nsv3887950	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,244,506 , GRCh38.p12 chr19: 11,123,345-11,133,830	LDLR
nsv5674037	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 18,065,861-18,075,330 , GRCh37 chr8: 17,923,370-17,932,839	ASAH1
nsv3883152	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr20: 36,948,745-36,957,728 , GRCh37 chr20: 35,577,148-35,586,131	SAMHD1
nsv3879612	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,242,799 , GRCh38.p12 chr19: 11,123,345-11,132,123	LDLR

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Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

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Items: 1 to 20 of 698

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Number of Variants: 20

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