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Results: 1 to 20 of 89

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Number of Variants: 20

Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
esv3585358copy number variation7estd214human GRCh37 (hg19) chr1: 17,360,695-17,363,624 , GRCh38 (hg38) chr1: 17,034,200-17,037,129 SDHB
esv3585357mobile element insertion1estd214human GRCh37 (hg19) chr1: 17,355,172-17,355,172 , GRCh38 (hg38) chr1: 17,028,677-17,028,677 SDHB
nsv1015056copy number variation1nstd100human NCBI36 (hg18) chr1: 8,395,006-18,504,821 , GRCh37 (hg19) chr1: 8,472,419-18,632,234 , GRCh38 (hg38) chr1: 8,412,359-18,305,740 TRNAN-GUU, TRNAE-UUC, 166 more genes
nsv1011057copy number variation1nstd100human NCBI36 (hg18) chr1: 13,656,686-20,708,053 , GRCh37 (hg19) chr1: 13,784,099-20,835,466 , GRCh38 (hg38) chr1: 13,457,632-20,508,973 TRNAN-GUU, TRNAE-UUC, 104 more genes
nsv1010841copy number variation1nstd100human NCBI36 (hg18) chr1: 8,862,443-21,655,443 , GRCh37 (hg19) chr1: 8,939,856-21,782,856 , GRCh38 (hg38) chr1: 8,879,797-21,456,363 TRNAN-GUU, TRNAE-UUC, 210 more genes
nsv1010020copy number variation1nstd100human NCBI36 (hg18) chr1: 17,241,278-17,360,430 , GRCh37 (hg19) chr1: 17,368,691-17,487,843 , GRCh38 (hg38) chr1: 17,042,196-17,161,348 PADI2, SDHB
nsv1009995copy number variation1nstd100human NCBI36 (hg18) chr1: 12,369,550-17,226,426 , GRCh37 (hg19) chr1: 12,446,963-17,353,839 , GRCh38 (hg38) chr1: 12,386,904-17,027,344 TRNAN-GUU, TRNAE-UUC, 93 more genes
nsv1009877copy number variation1nstd100human NCBI36 (hg18) chr1: 17,157,085-18,965,927 , GRCh37 (hg19) chr1: 17,284,498-19,093,340 , GRCh38 (hg38) chr1: 16,958,003-18,766,846 MIR3972, PADI2, 14 more genes
nsv1006805copy number variation2nstd100human NCBI36 (hg18) chr1: 17,170,088-17,232,254 , GRCh37 (hg19) chr1: 17,297,501-17,359,667 , GRCh38 (hg38) chr1: 16,971,006-17,033,172 ATP13A2, MFAP2, 2 more genes
nsv1006115copy number variation1nstd100human NCBI36 (hg18) chr1: 17,157,085-17,259,831 , GRCh37 (hg19) chr1: 17,284,498-17,387,244 , GRCh38 (hg38) chr1: 16,958,003-17,060,749 ATP13A2, MFAP2, 2 more genes
nsv1003622copy number variation1nstd100human NCBI36 (hg18) chr1: 16,320,257-20,448,255 , GRCh37 (hg19) chr1: 16,447,670-20,575,668 , GRCh38 (hg38) chr1: 16,121,175-20,249,175 TRNAN-GUU, TRNAE-UUC, 68 more genes
nsv984836copy number variation2nstd11humannot provided GRCh37 (hg19) chr1: 61,735-249,224,388 , NCBI36 (hg18) chr1: 51,598-247,191,011 , GRCh38 chr1: 61,735-248,930,189 AKT3, MIR942, 2550 more genes
nsv984705copy number variation1nstd92human GRCh37 (hg19) chr1: 14,922,000-29,839,000 , GRCh38 (hg38) chr1: 14,595,504-29,512,488 TRNAN-GUU, TRNAE-UUC, 271 more genes
nsv984625complex1nstd92human GRCh37 (hg19) chr1: 82,154-51,782,000 TRNAN-GUU, TRNAE-UUC, 789 more genes
esv3413571copy number variation1estd59human NCBI36 (hg18) chr1: 17,103,968-143,245,698 , GRCh37 (hg19) chr1: 17,231,381-144,534,341 , GRCh38 chr1: 16,904,886-149,505,813 MIR942, MIR760, 1109 more genes
esv3350737copy number variation1estd59human NCBI36 (hg18) chr1: 14,123-35,577,628 , GRCh37 (hg19) chr1: 24,260-35,805,041 , GRCh38 chr1: 24,260-35,339,440 TRNAN-GUU, TRNAE-UUC, 580 more genes
esv3041012insertion1estd209human GRCh37 (hg19) chr1: 17,378,507-17,378,507 , GRCh38 chr1: 17,052,012-17,052,012 SDHB
esv2989954copy number variation1estd209human GRCh37 (hg19) chr1: 17,370,575-17,370,576 , GRCh38 chr1: 17,044,080-17,044,081 SDHB
esv2989957copy number variation1estd209human GRCh37 (hg19) chr1: 17,380,195-17,380,196 , GRCh38 chr1: 17,053,700-17,053,701 SDHB
esv2989956copy number variation1estd209human GRCh37 (hg19) chr1: 17,375,338-17,375,339 , GRCh38 chr1: 17,048,843-17,048,844 SDHB

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