sp5[All Fields] AND 1[has_clinical] - dbVar

loading data ...

Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6314505	complex chromosomal rearrangement	3	nstd102	human	Uncertain significance	GRCh38.p12 chr2: 161,774,564-161,774,564 , GRCh38.p12 chr2: 161,774,565-161,774,565 , GRCh38.p12 chr2: 170,691,142-170,691,142 , GRCh38.p12 chr2: 170,715,404-170,715,404 , GRCh37 chr2: 162,631,074-162,631,074 , GRCh37 chr2: 162,631,075-162,631,075 , GRCh37 chr2: 171,547,652-171,547,652 , GRCh37 chr2: 171,571,914-171,571,914 , GRCh38.p12 chr1: 40,806,541-40,806,541 , GRCh38.p12 chr1: 40,806,540-40,806,540 , GRCh37 chr1: 41,272,212-41,272,212 , GRCh37 chr1: 41,272,213-41,272,213	SP5, KCNQ4, 2 more genes
nsv3910630	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331	SP5, DAZAP2P1, 2991 more genes
nsv6315449	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 158,048-30,187,456 , GRCh38.p12 chr8: 208,048-30,329,940	LOC101928016, RPL23AP54, 568 more genes
nsv4451512	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647	SP5, LINC01117, 339 more genes
nsv3917350	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr8: 2,292,235-27,361,796 , GRCh38 chr8: 2,475,295-27,504,279 , NCBI36 chr8: 2,121,457-27,417,713	LINC03022, RPS3AP31, 472 more genes
nsv7148253	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 449,893-23,854,904 , GRCh37.p13 chr8: 399,893-23,712,417	ENTPD4, LOC100421446, 447 more genes
nsv4768307	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890	SP5, RBM45, 258 more genes
nsv3904056	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 164,821,892-183,059,789 , NCBI36 chr2: 164,530,138-182,768,034 , GRCh38 chr2: 163,965,382-182,195,062	SP5, PRKRA, 256 more genes
nsv7148146	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 12,721,809-30,183,737 , GRCh37.p13 chr8: 12,579,318-30,041,253	LOC101929028, RPL35P6, 274 more genes
nsv3916527	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr8: 15,137,722-32,366,274 , GRCh37.p13 chr8: 15,093,351-32,246,732 , GRCh38.p12 chr8: 15,235,842-32,389,216	LOC105379343, INTS10, 281 more genes
nsv3921296	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 12,383,584-29,033,946 , NCBI36 chr8: 12,285,464-28,947,382 , GRCh37 chr8: 12,241,093-28,891,463	XPO7, ADRA1A, 264 more genes
nsv3894385	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 170,972,444-186,762,866 , GRCh37 chr2: 171,264,198-187,054,621 , GRCh38 chr2: 170,407,688-186,189,894	SP5, KRT18P29, 220 more genes
nsv3923174	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 18,972,996-33,619,264 , GRCh37 chr8: 18,830,506-33,476,782 , NCBI36 chr8: 18,874,786-33,596,324	RPLP1P9, CHRNA2, 259 more genes
nsv6315160	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123	SP5, EIF3EP3, 158 more genes
nsv3896830	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 13,091,530-24,483,615 , GRCh38.p12 chr8: 13,234,021-24,626,102	LOC105379297, ADAM24P, 161 more genes
nsv3909452	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 165,706,627-176,423,918 , GRCh38 chr2: 164,850,117-175,559,190 , NCBI36 chr2: 165,414,873-176,132,164	SP5, LOC107985959, 141 more genes
nsv3914220	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr2: 166,992,294-175,094,656 , GRCh37.p13 chr2: 167,284,048-175,386,410 , GRCh38.p12 chr2: 166,427,538-174,521,682	SP5, GPR155-DT, 111 more genes
nsv3903934	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 164,922,548-172,962,614 , NCBI36 chr2: 164,630,794-172,670,860 , GRCh38 chr2: 164,066,038-172,097,886	SP5, LOC105373739, 95 more genes
nsv6315016	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 171,524,396-178,694,337 , GRCh38.p12 chr2: 170,667,886-177,829,610	SP5, LOC105373746, 136 more genes
nsv4457159	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr8: 21,662,847-24,199,218 , GRCh38.p12 chr8: 21,805,335-24,341,705	SINHCAFP3, RPL23AP55, 66 more genes

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

Send to:

Search results

Items: 1 to 20 of 105

Number of Variants: 20

Send to:

Supplemental Content

Find related data

Search details

Recent activity

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 105

Page of 6

Number of Variants: 20

Page of 6

Supplemental Content

Find related data

Search details

Recent activity