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

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Items: 16

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Number of Variants: 16

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv4683536	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 58,185,738-58,190,376 , GRCh38.p12 chr12: 57,791,955-57,796,593	AVIL, TSFM
nsv5672793	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 58,186,759-58,190,376 , GRCh38.p12 chr12: 57,792,976-57,796,593	AVIL, TSFM
nsv6314393	insertion	1	nstd102	human	Pathogenic	GRCh38 chr12: 57,796,187-57,796,187 , GRCh37 chr12: 58,189,970-58,189,970	AVIL, TSFM
nsv3911302	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 57,013,355-63,042,498 , NCBI36 chr12: 55,693,406-61,722,545 , GRCh37 chr12: 57,407,139-63,436,278	AVIL, CTDSP2, 97 more genes
nsv3910298	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 57,434,942-60,667,715 , GRCh38 chr12: 57,041,158-60,273,934 , NCBI36 chr12: 55,721,209-58,953,982	AVIL, MARS1, 72 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	AVIL, RNA5SP369, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	AVIL, LOH12CR2, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	AVIL, RNU4ATAC16P, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	AVIL, BTG1P1, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	AVIL, OR5BT1P, 2441 more genes
nsv4675143	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523	AVIL, OR6C71P, 183 more genes
nsv7098889	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 57,064,059-59,314,016 , GRCh38.p12 chr12: 56,670,275-58,920,235	AVIL, CDK4, 77 more genes
nsv4675952	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 57,582,163-59,031,979 , GRCh38.p12 chr12: 57,188,380-58,638,197	AVIL, CDK4, 57 more genes
nsv6637645	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 57,631,073-58,236,597 , GRCh38.p12 chr12: 57,237,290-57,842,814	AVIL, CDK4, 36 more genes
nsv7093976	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 57,534,470-58,190,366 , GRCh38.p12 chr12: 57,140,687-57,796,583	AVIL, KIF5A, 37 more genes
nsv6309275	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 57,881,874-58,190,366 , GRCh38.p12 chr12: 57,488,091-57,796,583	AVIL, B4GALNT1, 25 more genes

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