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Items: 1 to 20 of 161

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099254copy number variation1nstd231human GRCh38.p12 chr1: 182,376,401-191,898,122 , GRCh37 chr1: 182,345,536-191,867,252 DHX9, GLUL, 99 more genes
    nsv6637124copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,727,182-192,260,142 , GRCh38.p12 chr1: 179,758,047-192,291,012 LOC101928933, KIAA1614-AS1, 148 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6542529inversion1nstd223human GRCh38 chr1: 183,459,219-183,459,962 , GRCh37.p13 chr1: 183,428,354-183,429,097 SMG7-AS1, LOC105371646
    nsv6538365inversion1nstd223human GRCh38 chr1: 178,815,320-184,820,865 , GRCh37.p13 chr1: 178,784,455-184,789,999 NPHS2, COLGALT2, 111 more genes
    nsv6310922copy number variation1nstd102humanUncertain significance GRCh37 chr1: 179,520,308-183,559,464 , GRCh38.p12 chr1: 179,551,173-183,590,329 NMNAT2, FAM163A, 78 more genes
    nsv6290451copy number variation1nstd102humanPathogenic GRCh37 chr1: 178,522,021-190,322,133 , GRCh38.p12 chr1: 178,552,886-190,353,003 RNU7-13P, LOC105371642, 167 more genes
    nsv6133952copy number variation1nstd213human GRCh37 chr1: 182,620,000-185,630,001 , GRCh38.p12 chr1: 182,650,865-185,660,869 DHX9, IVNS1ABP, 54 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133573copy number variation1nstd213human GRCh37 chr1: 173,820,000-189,960,001 , GRCh38.p12 chr1: 173,850,862-189,990,871 ABL2, ASTN1, 235 more genes
    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
    nsv5372158translocation1nstd200human GRCh38 chr1: 183,470,878-183,470,878 , GRCh38 chr6: 48,585,798-48,585,798 , GRCh37.p13 chr1: 183,440,013-183,440,013 , GRCh37.p13 chr6: 48,553,534-48,553,534 SMG7, SMG7-AS1, 1 more genes
    nsv5372155translocation1nstd200human GRCh38 chr1: 183,470,877-183,470,877 , GRCh38 chr2: 159,314,229-159,314,229 , GRCh37.p13 chr1: 183,440,012-183,440,012 , GRCh37.p13 chr2: 160,170,740-160,170,740 SMG7, BAZ2B, 1 more genes
    nsv5330965translocation1nstd200human GRCh37 chr1: 183,440,012-183,440,012 , GRCh37 chr2: 160,170,740-160,170,740 , GRCh38.p12 chr1: 183,470,877-183,470,877 , GRCh38.p12 chr2: 159,314,229-159,314,229 SMG7, BAZ2B, 1 more genes
    nsv5178008mobile element insertion1nstd203human GRCh38 chr1: 183,470,547-183,470,562 , GRCh37.p13 chr1: 183,439,682-183,439,697 SMG7, SMG7-AS1
    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
    nsv4679470copy number variation1nstd189human GRCh37.p13 chr1: 183,284,304-183,608,085 , GRCh38.p12 chr1: 183,315,169-183,638,950 , NCF2, 7 more genes
    nsv4673925copy number variation1nstd102humanPathogenic GRCh37 chr1: 177,551,193-199,599,056 , GRCh38.p12 chr1: 177,582,058-199,629,928 QSOX1, PTPRC, 263 more genes
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