bpnt1[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
nsv6290569	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 215,199,578-223,035,427 , GRCh38.p12 chr1: 215,026,235-222,862,085	BPNT1, SPATA17, 97 more genes
nsv3898157	copy number variation	2	nstd102	human	Pathogenic	NCBI36 chr1: 213,446,726-220,244,033 , GRCh38 chr1: 215,206,760-222,004,068 , GRCh37 chr1: 215,380,103-222,177,410	BPNT1, LINC01352, 79 more genes
nsv1398588	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 215,588,712-222,145,072 , GRCh38.p12 chr1: 215,415,369-221,971,730	BPNT1, RPS26P17, 77 more genes
nsv4674721	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 219,734,913-224,104,993 , GRCh38.p12 chr1: 219,561,571-223,917,291	BPNT1, PRELID3BP1, 82 more genes
nsv6290612	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 216,243,817-220,231,236 , GRCh38.p12 chr1: 216,070,475-220,057,894	BPNT1, LINC00210, 36 more genes
nsv7095972	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 218,520,044-220,986,760 , GRCh38.p12 chr1: 218,346,702-220,813,418	BPNT1, TGFB2, 38 more genes
nsv7095973	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 220,088,791-220,445,679 , GRCh38.p12 chr1: 219,915,449-220,272,337	BPNT1, AURKAP1, 13 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	BPNT1, 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	BPNT1, 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	BPNT1, RNU1-153P, 4887 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	BPNT1, RGS18, 1186 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	BPNT1, 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	BPNT1, 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	BPNT1, 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	BPNT1, 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	BPNT1, HLX, 749 more genes
nsv3892818	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 209,963,625-248,918,469 , GRCh37 chr1: 210,136,970-249,212,668 , NCBI36 chr1: 208,203,593-247,179,291	BPNT1, LOC105373046, 740 more genes
nsv4684187	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793	BPNT1, HLX-AS1, 740 more genes
nsv3895767	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 187,143,981-224,299,417 , NCBI36 chr1: 185,379,736-222,553,742 , GRCh37 chr1: 187,113,113-224,487,119	BPNT1, LOC107985458, 590 more genes
nsv3889347	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 185,644,663-221,698,833 , GRCh38.p12 chr1: 185,675,531-221,525,491	BPNT1, MIR1231, 543 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 36

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Number of Variants: 20

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Supplemental Content

Find related data

Search details

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