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Items: 1 to 20 of 241

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5945376copy number variation1nstd209human GRCh38 chr14: 59,539,320-59,539,655 , GRCh37.p13 chr14: 60,006,038-60,006,373 CCDC175
    nsv5714886mobile element insertion1nstd211human GRCh38 chr14: 59,571,434-59,571,434 , GRCh37.p13 chr14: 60,038,152-60,038,152 CCDC175
    nsv5554572sequence alteration1nstd206human GRCh38 chr14: 59,519,384-59,519,386 , GRCh37.p13 chr14: 59,986,102-59,986,104 CCDC175
    nsv5503246copy number variation1nstd206human GRCh38 chr14: 59,559,541-59,560,183 , GRCh37.p13 chr14: 60,026,259-60,026,901 CCDC175
    nsv5159977mobile element insertion1nstd203human GRCh38 chr14: 59,533,426-59,533,442 , GRCh37.p13 chr14: 60,000,144-60,000,160 CCDC175
    nsv5152754mobile element insertion1nstd203human GRCh38 chr14: 59,561,719-59,561,736 , GRCh37.p13 chr14: 60,028,437-60,028,454 CCDC175
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4529600copy number variation1nstd166human GRCh37.p13 chr14: 60,019,641-60,020,243 , GRCh38.p12 chr14: 59,552,923-59,553,525 CCDC175
    nsv4512627mobile element insertion1nstd166human GRCh37.p13 chr14: 59,983,091-59,983,091 , GRCh38.p12 chr14: 59,516,373-59,516,373 CCDC175
    nsv4508109mobile element insertion1nstd166human GRCh37.p13 chr14: 60,000,144-60,000,144 , GRCh38.p12 chr14: 59,533,426-59,533,426 CCDC175
    nsv4506964mobile element insertion1nstd166human GRCh37.p13 chr14: 59,987,345-59,987,345 , GRCh38.p12 chr14: 59,520,627-59,520,627 CCDC175
    nsv4505354mobile element insertion1nstd166human GRCh37.p13 chr14: 60,028,437-60,028,437 , GRCh38.p12 chr14: 59,561,719-59,561,719 CCDC175
    nsv4455097copy number variation1nstd102humanUncertain significance GRCh37 chr14: 59,939,135-60,006,849 , GRCh38.p12 chr14: 59,472,417-59,540,131 L3HYPDH, CCDC175, 1 more genes
    nsv4222090copy number variation1nstd166human GRCh37.p13 chr14: 59,981,348-59,981,467 , GRCh38.p12 chr14: 59,514,630-59,514,749 CCDC175
    nsv4220380copy number variation1nstd166human GRCh37.p13 chr14: 60,009,502-60,010,864 , GRCh38.p12 chr14: 59,542,784-59,544,146 CCDC175
    nsv4219808copy number variation1nstd166human GRCh37.p13 chr14: 60,026,259-60,026,901 , GRCh38.p12 chr14: 59,559,541-59,560,183 CCDC175
    nsv4214241copy number variation1nstd166human GRCh37.p13 chr14: 60,008,467-60,017,030 , GRCh38.p12 chr14: 59,541,749-59,550,312 CCDC175
    nsv3924033copy number variation1nstd102humanPathogenic GRCh37 chr14: 58,120,131-64,560,246 , GRCh38 chr14: 57,653,413-64,093,528 , NCBI36 chr14: 57,189,884-63,629,999 DACT1, UBA52P3, 105 more genes
    nsv3922652copy number variation1nstd102humanPathogenic GRCh37 chr14: 57,507,754-67,674,948 , NCBI36 chr14: 56,577,507-66,744,701 , GRCh38 chr14: 57,041,036-67,208,231 PARP1P2, SNAPC1, 160 more genes
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