h3-3a[All Fields] AND 1[has_clinical] - 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
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	PRPSAP1, CACNG1, 1350 more genes
nsv4674115	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061	H3-3A, LOC105373163, 258 more genes
nsv4674157	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 222,641,389-228,137,574 , GRCh38.p12 chr1: 222,468,047-227,949,873	H3-3A, SRP9, 123 more genes
nsv3908695	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 221,587,658-226,810,656 , GRCh38 chr1: 223,347,693-228,556,332 , GRCh37 chr1: 223,521,035-228,744,033	H3-3A, SNAP47, 137 more genes
nsv3899116	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 223,636,497-228,621,170 , GRCh38 chr1: 225,382,172-230,418,801 , GRCh37 chr1: 225,569,874-230,554,547	H3-3A, ISCA1P2, 146 more genes
nsv3919795	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr17: 71,144,026-71,478,420 , GRCh37 chr17: 73,632,431-73,966,825 , GRCh38 chr17: 75,636,351-75,970,744	ITGB4, TRIM65, 15 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	H3-3A, MARK1, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	H3-3A, SNAP47, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	H3-3A, RNU1-153P, 4887 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	MIR3185, YWHAEP6, 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	P4HB, LOC105371808, 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	MIR21, LOC105371899, 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	SMURF2, LOC112268199, 2366 more genes
nsv4450583	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041	H3-3A, RGS18, 1186 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	LOC105371922, GJD3, 1855 more genes
nsv3881012	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 195,483,439-249,213,000 , GRCh38.p12 chr1: 195,514,309-248,918,801	H3-3A, LOC105372928, 1062 more genes
nsv6634372	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485	H3-3A, LOC105373279, 1036 more genes
nsv4674140	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793	H3-3A, RNA5S8, 893 more genes
nsv3897747	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 207,346,642-248,930,485 , GRCh37 chr1: 207,519,987-249,224,684 , NCBI36 chr1: 205,586,610-247,191,307	H3-3A, RPS18P3, 793 more genes
nsv3890682	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 209,819,552-249,225,312 , NCBI36 chr1: 207,886,175-247,191,935 , GRCh38 chr1: 209,646,207-248,931,113	H3-3A, HLX, 749 more genes

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Number of Variants: 20

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dbVar

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

Search results

Items: 1 to 20 of 58

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Number of Variants: 20

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Search details

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