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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv4904422copy number variation1nstd200human GRCh38 chr1: 228,275,386-228,715,663 , GRCh37.p13 chr1: 228,463,087-228,851,410 DUSP5P1, RNA5S16, 34 more genes
    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
    nsv4728374copy number variation1nstd102humanLikely benign GRCh37 chr1: 228,456,544-228,716,927 , GRCh38.p12 chr1: 228,268,843-228,529,226 LOC101927401, H3-4, 12 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674693copy number variation1nstd102humanLikely benign GRCh37 chr1: 228,459,781-228,849,579 , GRCh38.p12 chr1: 228,272,080-228,713,832 , GRCh38.p12 chr1|NW_018654708.1: 1-290,835 RNA5S1, TRIM11, 34 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4674115copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061 LOC105373163, CDC42BPA, 258 more genes
    nsv4454325copy number variation1nstd102humanUncertain significance GRCh37 chr1: 228,235,107-228,983,659 , GRCh38.p12 chr1: 228,047,406-228,847,912 IBA57-DT, RNA5SP19, 48 more genes
    nsv4452349copy number variation1nstd102humanUncertain significance GRCh37 chr1: 228,408,651-229,301,909 , GRCh38.p12 chr1: 228,220,950-229,166,162 RNA5S6, RNF187, 39 more genes
    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
    nsv4371818copy number variation1nstd173human GRCh37 chr1: 228,439,894-228,793,246 , GRCh38.p12 chr1: 228,252,193-228,657,499 , GRCh38.p12 chr1|NW_018654708.1: 1-234,828 RNA5S8, TRIM11, 33 more genes
    nsv4346629copy number variation1nstd102humanUncertain significance GRCh37 chr1: 228,224,824-228,784,907 , GRCh38.p12 chr1: 228,037,123-228,649,160 RNA5S9, ARF1, 46 more genes
    nsv4062444copy number variation1nstd166human GRCh37.p13 chr1: 228,463,087-228,851,410 , GRCh38.p12 chr1: 228,275,386-228,715,663 , GRCh38.p12 chr1|NW_018654708.1: 1-292,666 RNA5SP19, RNA5S15, 34 more genes
    nsv4055788copy number variation1nstd166human GRCh37.p13 chr1: 228,643,560-228,644,441 , GRCh38.p12 chr1|NW_018654708.1: 47,058-47,939 , GRCh38.p12 chr1: 228,455,859-228,456,740 H2BC26, H2AC25
    nsv3921757copy number variation1nstd102humannot provided NCBI36 chr1: 214,401,568-247,249,719 , GRCh37.p13 chr1: 216,334,945-249,233,096 , GRCh38.p12 chr1: 216,161,603-248,938,897 MTCYBP15, RNU4-77P, 658 more genes
    nsv3920381copy number variation1nstd102humanUncertain significance NCBI36 chr1: 226,639,258-226,773,991 , GRCh37.p13 chr1: 228,572,635-228,707,368 , GRCh38.p12 chr1: 228,384,934-228,519,667 , GRCh38.p12 chr1|NW_018654708.1: 1-110,866 H2AC25, RNF187, 10 more genes
    nsv3914847copy number variation1nstd102humanPathogenic NCBI36 chr1: 223,116,610-247,199,719 , GRCh37.p13 chr1: 225,049,987-249,233,096 , GRCh38.p12 chr1: 224,862,285-248,938,897 RNU6-1089P, TRE-CTC2-1, 518 more genes
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