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Items: 1 to 20 of 154

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5558650sequence alteration1nstd206human GRCh38 chr1: 201,410,186-201,422,146 , GRCh37.p13 chr1: 201,379,314-201,391,274 TNNI1
    nsv5442557copy number variation1nstd206human GRCh38 chr1: 201,410,135-201,422,177 , GRCh37.p13 chr1: 201,379,263-201,391,305 TNNI1
    nsv5441872copy number variation1nstd206human GRCh38 chr1: 201,412,421-201,412,485 , GRCh37.p13 chr1: 201,381,549-201,381,613 TNNI1
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5280610copy number variation1nstd204human GRCh38.p13 chr1: 201,413,191-201,418,462 , GRCh37.p13 chr1: 201,382,319-201,387,590 TNNI1
    nsv5208836copy number variation1nstd204human GRCh38.p13 chr1: 201,413,134-201,418,297 , GRCh37.p13 chr1: 201,382,262-201,387,425 TNNI1
    nsv5078133mobile element insertion1nstd203human GRCh38 chr1: 201,408,466-201,408,478 , GRCh37.p13 chr1: 201,377,594-201,377,606 TNNI1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4594229copy number variation1nstd183human GRCh37 chr1: 201,378,200-201,391,082 , GRCh38.p12 chr1: 201,409,072-201,421,954 TNNI1
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4052544copy number variation1nstd166human GRCh37.p13 chr1: 201,381,549-201,381,613 , GRCh38.p12 chr1: 201,412,421-201,412,485 TNNI1
    nsv3922179copy number variation1nstd102humanUncertain significance NCBI36 chr1: 199,509,694-200,143,215 , GRCh37.p13 chr1: 201,243,071-201,876,592 , GRCh38.p12 chr1: 201,273,943-201,907,464 CSRP1, LOC101929343, 17 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3905391copy number variation1nstd102humanUncertain significance NCBI36 chr1: 199,462,176-200,249,955 , GRCh37 chr1: 201,195,553-201,983,332 , GRCh38 chr1: 201,226,425-202,014,204 NAV1, MIR6739, 25 more genes
    nsv3901050copy number variation1nstd102humanPathogenic GRCh38 chr1: 200,144,603-203,112,078 , NCBI36 chr1: 198,380,354-201,347,829 , GRCh37 chr1: 200,113,731-203,081,206 IPO9, CYB5R1, 80 more genes
    nsv3895767copy number variation1nstd102humanPathogenic GRCh38 chr1: 187,143,981-224,299,417 , NCBI36 chr1: 185,379,736-222,553,742 , GRCh37 chr1: 187,113,113-224,487,119 LOC107985458, SLC45A3, 590 more genes
    nsv3889347copy number variation1nstd102humanPathogenic GRCh37 chr1: 185,644,663-221,698,833 , GRCh38.p12 chr1: 185,675,531-221,525,491 MIR1231, PTPN14, 543 more genes
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