hpd[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
nsv3879543	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 121,843,690-121,847,234 , GRCh37 chr12: 122,281,596-122,285,140	HPD
nsv4683291	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 122,284,748-122,287,716 , GRCh38.p12 chr12: 121,846,842-121,849,810	HPD
nsv3889327	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 122,277,614-122,277,974 , GRCh38 chr12: 121,839,708-121,840,068	HPD
nsv7093958	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 122,281,596-122,281,758 , GRCh38.p12 chr12: 121,843,690-121,843,852	HPD
nsv7136987	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 122,295,339-122,296,592 , GRCh38.p12 chr12: 121,857,433-121,858,686	HPD, TIALD
nsv3899065	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr22: 50,968,848-50,976,445 , GRCh38.p12 chr22: 50,530,419-50,538,016	CIMAP1B, TYMP
nsv7137030	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 122,281,739-122,292,608 , GRCh38.p12 chr12: 121,843,833-121,854,702	HPD, TIALD
nsv4682736	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 50,964,189-50,968,148 , GRCh38.p12 chr22: 50,525,760-50,529,719	TYMP, SCO2, 1 more genes
nsv3901590	copy number variation	1	nstd102	human	Benign	GRCh37 chr9: 5,381,870-5,523,773 , GRCh38.p12 chr9: 5,381,870-5,523,773	PDCD1LG2, RNF152P1, 2 more genes
nsv3890419	copy number variation	1	nstd102	human	Benign	GRCh37 chr22: 50,944,163-50,962,782 , GRCh38.p12 chr22: 50,505,734-50,524,353	LMF2, NCAPH2, 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	DAZAP2P1, RPL36AP16, 2991 more genes
nsv3920950	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr9: 194,104-18,872,279 , GRCh37 chr9: 204,104-18,882,279 , GRCh38 chr9: 204,104-18,882,281	RPL4P5, SMARCA2, 193 more genes
nsv3910019	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 220,253-18,708,805 , NCBI36 chr9: 210,253-18,698,803 , GRCh37 chr9: 220,253-18,708,803	LOC107987049, RNU2-47P, 191 more genes
nsv5381767	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 204,193-18,654,812 , GRCh38.p12 chr9: 204,193-18,654,814	ACTG1P14, DMAC1, 191 more genes
nsv4768366	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 204,193-18,073,357 , GRCh38.p12 chr9: 204,193-18,073,359	DOCK8-AS1, RN7SL25P, 186 more genes
nsv3910119	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr9: 194,193-18,063,357 , GRCh38 chr9: 204,193-18,073,359 , GRCh37 chr9: 204,193-18,073,357	RNA5SP279, CDC37L1, 186 more genes
nsv3917303	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 220,253-18,073,359 , GRCh37 chr9: 220,253-18,073,357 , NCBI36 chr9: 210,253-18,063,357	DMAC1, RNU7-185P, 185 more genes
nsv4674929	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 203,861-17,789,410 , GRCh38.p12 chr9: 203,861-17,789,412	LINC02851, LOC105375971, 184 more genes
nsv3905168	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 203,861-17,655,298 , GRCh38.p12 chr9: 203,861-17,655,300	RANBP6, CDCA4P1, 184 more genes
nsv3899178	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 213,161-17,496,750 , GRCh38.p12 chr9: 213,161-17,496,752	GLIS3, LDHAP4, 181 more genes

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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 425

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Number of Variants: 20

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