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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5422376copy number variation1nstd206human GRCh38 chr1: 31,617,006-31,617,061 , GRCh37.p13 chr1: 32,082,607-32,082,662 HCRTR1
    nsv5289171copy number variation1nstd204human GRCh37.p13 chr1: 32,065,417-32,115,043 , GRCh38.p13 chr1: 31,599,816-31,649,442 , HCRTR1, 2 more genes
    nsv5216237copy number variation1nstd204human GRCh38.p13 chr1: 31,599,901-31,649,300 , GRCh37.p13 chr1: 32,065,502-32,114,901 , PEF1, 2 more genes
    nsv5214521copy number variation1nstd204human GRCh38.p13 chr1: 31,598,935-31,632,428 , GRCh37.p13 chr1: 32,064,536-32,098,029 HCRTR1, PEF1
    nsv5203947copy number variation1nstd204human GRCh38.p13 chr1: 31,618,318-31,619,387 , GRCh37.p13 chr1: 32,083,919-32,084,988 HCRTR1
    nsv4895773copy number variation1nstd200human GRCh38 chr1: 31,610,919-31,702,511 , GRCh37.p13 chr1: 32,076,520-32,168,112 , COL16A1, 4 more genes
    nsv4895772copy number variation1nstd200human GRCh38 chr1: 31,599,844-31,649,415 , GRCh37.p13 chr1: 32,065,445-32,115,016 , PEF1, 2 more genes
    nsv4772942copy number variation1nstd200human GRCh37 chr1: 32,065,445-32,115,016 , GRCh38.p12 chr1: 31,599,844-31,649,415 , PEF1-AS1, 2 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4674454copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 30,819,875-34,380,419 , GRCh38.p12 chr1: 30,347,028-33,914,818 AK2, ADGRB2, 97 more genes
    nsv4450492copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,090,118-32,280,833 , GRCh38.p12 chr1: 31,624,517-31,815,232 HCRTR1, MIR4254, 6 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv3908863copy number variation1nstd102humanUncertain significance GRCh37 chr1: 31,337,689-32,486,842 , NCBI36 chr1: 31,110,276-32,259,429 , GRCh38 chr1: 30,864,842-32,021,241 LOC107984935, RPL21P22, 32 more genes
    nsv3907483copy number variation1nstd102humanPathogenic GRCh37 chr1: 27,289,536-32,744,646 , GRCh38 chr1: 26,963,045-32,279,045 , NCBI36 chr1: 27,162,123-32,517,233 ATP5IF1, LOC102723760, 138 more genes
    nsv3905012copy number variation1nstd102humanPathogenic GRCh38 chr1: 31,122,108-32,402,160 , GRCh37 chr1: 31,594,955-32,867,761 , NCBI36 chr1: 31,367,542-32,640,348 LDC1P, ADGRB2, 42 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3895257copy number variation1nstd102humanPathogenic GRCh37 chr1: 31,239,605-33,825,029 , NCBI36 chr1: 31,012,192-33,597,616 , GRCh38 chr1: 30,766,758-33,359,428 LOC105378623, TINAGL1, 85 more genes
    nsv3891425copy number variation1nstd102humanPathogenic NCBI36 chr1: 28,623,965-33,361,042 , GRCh37 chr1: 28,751,378-33,588,455 , GRCh38 chr1: 28,424,867-33,122,854 SNHG3, LOC105378620, 115 more genes
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