copz2[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 13

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3911811	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577	COPZ2, PRPSAP1, 1350 more genes
nsv3911757	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 43,419,251-44,761,758 , GRCh37 chr17: 46,064,252-47,406,759 , GRCh38 chr17: 47,986,886-49,329,397	COPZ2, LINC02086, 59 more genes
nsv3903684	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 8,547-81,060,040 , GRCh38.p12 chr17: 158,756-83,102,004	COPZ2, MIR3185, 2366 more genes
nsv3899740	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 7,214-81,058,310 , GRCh38.p12 chr17: 157,423-83,100,564	COPZ2, P4HB, 2366 more genes
nsv3906245	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 12,344-81,057,996 , GRCh38.p12 chr17: 162,553-83,100,251	COPZ2, MIR21, 2366 more genes
nsv3907261	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr17: 526-81,041,938 , GRCh38.p12 chr17: 150,733-83,084,062	COPZ2, SMURF2, 2366 more genes
nsv3914783	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577	COPZ2, LOC105371922, 1855 more genes
nsv3909511	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846	COPZ2, FOXK2, 958 more genes
nsv3913552	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225	COPZ2, RNU6-131P, 1075 more genes
nsv3911563	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214	COPZ2, PLEKHH3, 958 more genes
nsv7137094	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr17: 44,949,883-46,507,482 , GRCh38.p12 chr17: 46,872,517-48,430,120	COPZ2, CDC27, 49 more genes
nsv3910210	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr17: 43,360,979-43,669,491 , GRCh37.p13 chr17: 46,005,980-46,314,492 , GRCh38.p12 chr17: 47,928,614-48,237,130	COPZ2, SP2-AS1, 14 more genes
nsv3899856	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr17: 45,884,442-46,124,946 , GRCh38.p12 chr17: 47,807,076-48,047,584	COPZ2, MRPL10, 13 more genes

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copz2[All Fields] AND 1[has_clinical] (14)
dbVar
Mus musculus Ly49J protein mRNA, complete cds
Mus musculus Ly49J protein mRNA, complete cds
gi|5523997|gb|AF110492.1|

Nucleotide

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