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Items: 1 to 20 of 177

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5928535copy number variation1nstd209human GRCh38 chr17: 47,939,812-47,939,893 , GRCh37.p13 chr17: 46,017,178-46,017,259 PNPO, SP2-AS1
    nsv5560574inversion1nstd206human GRCh38 chr17: 5,159,886-60,193,777 , GRCh37.p13 chr17: 5,063,181-58,271,138 AP2B1, ALDH3A1, 1655 more genes
    nsv5559689inversion1nstd206human GRCh38 chr17: 46,269,018-67,991,577 , GRCh37.p13 chr17: 44,346,384-65,936,125 CA4, ACE, 503 more genes
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 ACACA, ASIC2, 1099 more genes
    nsv5530502copy number variation1nstd206human GRCh38 chr17: 47,938,868-47,939,795 , GRCh37.p13 chr17: 46,016,234-46,017,161 SP2-AS1, PNPO
    nsv5517016copy number variation1nstd206human GRCh38 chr17: 47,939,813-47,939,894 , GRCh37.p13 chr17: 46,017,179-46,017,260 PNPO, SP2-AS1
    nsv5358911translocation1nstd200human GRCh38 chr17: 47,939,813-47,939,813 , GRCh38 chr17: 47,939,894-47,939,894 , GRCh37.p13 chr17: 46,017,260-46,017,260 , GRCh37.p13 chr17: 46,017,179-46,017,179 SP2-AS1, PNPO
    nsv5288564copy number variation1nstd204human GRCh38.p13 chr17: 47,781,201-48,222,600 , GRCh37.p13 chr17: 45,858,567-46,299,962 CDK5RAP3, NFE2L1, 20 more genes
    nsv5286091copy number variation1nstd204human GRCh38.p13 chr17: 47,897,301-48,008,200 , GRCh37.p13 chr17: 45,974,667-46,085,566 PNPO, CDK5RAP3, 3 more genes
    nsv4506489mobile element insertion1nstd166human GRCh37.p13 chr17: 46,018,691-46,018,691 , GRCh38.p12 chr17: 47,941,325-47,941,325 SP2-AS1, PNPO
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 AK4P1, BRCA1, 1499 more genes
    nsv4271854copy number variation1nstd166human GRCh37.p13 chr17: 45,913,073-46,111,423 , GRCh38.p12 chr17: 47,835,707-48,034,057 LRRC46, SP2-AS1, 9 more genes
    nsv4271250copy number variation1nstd166human GRCh37.p13 chr17: 46,017,179-46,017,261 , GRCh38.p12 chr17: 47,939,813-47,939,895 PNPO, SP2-AS1
    nsv4252469copy number variation1nstd166human GRCh37.p13 chr17: 46,019,178-46,032,170 , GRCh38.p12 chr17: 47,941,812-47,954,804 SP2-AS1, PRR15L, 1 more genes
    nsv3919205copy number variation1nstd102humanUncertain significance NCBI36 chr17: 43,118,852-43,419,326 , GRCh37 chr17: 45,763,853-46,064,327 , GRCh38 chr17: 47,686,487-47,986,961 TBKBP1, CDK5RAP3, 11 more genes
    nsv3914783copy number variation1nstd102humanPathogenic 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 ATP5MGP6, SNORA90, 1914 more genes
    nsv3913552copy number variation1nstd102humanPathogenic NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225 , GRCh38 chr17: 36,449,220-75,053,130 HOXB2, HOXB5, 1101 more genes
    nsv3911811copy number variation1nstd102humanPathogenic 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 DHX8, CNTNAP1, 1393 more genes
    nsv3911563copy number variation1nstd102humanPathogenic GRCh37 chr17: 48,563,237-65,936,105 , NCBI36 chr17: 45,918,236-63,677,950 , GRCh38 chr17: 36,449,220-68,170,214 LOC101929185, PPP1R9B, 978 more genes
    nsv3910210copy number variation1nstd102humanUncertain significance NCBI36 chr17: 43,360,979-43,669,491 , GRCh37.p13 chr17: 46,005,980-46,314,492 , GRCh38.p12 chr17: 47,928,614-48,237,130 CBX1, PRR15L, 14 more genes
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