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Items: 1 to 20 of 128

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137076copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 149,220,152-149,633,312 , GRCh38.p12 chr2: 148,462,583-148,875,743 KIF5C, UBBP3, 8 more genes
    nsv7044798inversion1nstd229human GRCh38 chr2: 148,602,726-149,090,765 , GRCh37.p13 chr2: 149,360,295-149,947,279 RNU2-9P, KIF5C-AS1, 9 more genes
    nsv7041072inversion1nstd229human GRCh38 chr2: 148,602,723-149,086,594 , GRCh37.p13 chr2: 149,360,292-149,943,108 KIF5C, LOC101928526, 9 more genes
    nsv6350919copy number variation1nstd223human GRCh38 chr2: 146,838,349-149,599,030 , GRCh37.p13 chr2: 147,595,917-150,455,544 , TXNP5, 33 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313615copy number variation1nstd102humanUncertain significance GRCh37 chr2: 149,123,669-149,665,709 , GRCh38.p12 chr2: 148,366,100-148,908,140 LOC101928526, KIF5C, 9 more genes
    nsv6313565copy number variation1nstd102humanUncertain significance GRCh37 chr2: 148,954,840-150,800,195 , GRCh38.p12 chr2: 148,197,271-149,943,681 USP8P2, TXNP5, 24 more genes
    nsv6313481copy number variation1nstd102humanPathogenic GRCh37 chr2: 143,258,712-152,867,819 , GRCh38.p12 chr2: 142,501,143-152,011,305 STIP1P1, RNU6-715P, 98 more genes
    nsv6290982copy number variation1nstd102humanPathogenic GRCh37 chr2: 142,409,401-152,680,804 , GRCh38.p12 chr2: 141,651,832-151,824,290 LOC101928526, MTCO2P5, 101 more genes
    nsv6134498copy number variation1nstd213human GRCh37 chr2: 145,530,000-149,690,001 , GRCh38.p12 chr2: 144,772,433-148,932,432 , ACVR2A, 38 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5450895copy number variation1nstd206human GRCh38 chr2: 141,459,078-156,842,302 , GRCh37.p13 chr2: 142,216,647-157,698,814 , LOC105373696, 163 more genes
    nsv5434730copy number variation1nstd206human GRCh38 chr2: 148,693,148-164,933,481 , GRCh37.p13 chr2: 149,450,717-165,789,991 , RBM43, 205 more genes
    nsv5381338copy number variation1nstd102humanPathogenic GRCh37 chr2: 136,473,383-152,727,396 , GRCh38.p12 chr2: 135,715,813-151,870,882 YY1P2, SPOPL, 156 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4674226copy number variation1nstd102humanPathogenic GRCh37 chr2: 147,173,792-158,346,266 , GRCh38.p12 chr2: 146,416,224-157,489,754 RBM43, LINC01931, 120 more genes
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
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