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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146075insertion1nstd232human GRCh37.p13 chr19: 54,633,722-54,633,722 , GRCh38.p12 chr19: 54,130,291-54,130,291 , GRCh38.p12 chr19|NT_187693.1: 104,835-104,835 , GRCh38.p12 chr19|NW_003571061.2: 104,835-104,835 , GRCh38.p12 chr19|NW_003571057.2: 104,835-104,835 , GRCh38.p12 chr19|NW_003571058.2: 104,835-104,835 , GRCh38.p12 chr19|NW_003571059.2: 104,835-104,835 , GRCh38.p12 chr19|NW_003571060.1: 104,835-104,835 , GRCh38.p12 chr19|NW_003571056.2: 104,835-104,835 , GRCh38.p12 chr19|NW_003571055.2: 104,835-104,835 , GRCh38.p12 chr19|NW_003571054.1: 104,835-104,835 PRPF31
    nsv7141340copy number variation1nstd232human GRCh37.p13 chr19: 55,589,573-55,589,683 , GRCh38.p12 chr19|NW_003571058.2: 1,060,277-1,060,387 , GRCh38.p12 chr19|NW_003571059.2: 996,570-996,680 , GRCh38.p12 chr19|NW_003571060.1: 980,987-981,097 , GRCh38.p12 chr19|NW_003571056.2: 1,058,191-1,058,301 , GRCh38.p12 chr19|NW_003571055.2: 723,407-723,517 , GRCh38.p12 chr19|NW_003571054.1: 981,603-981,713 , GRCh38.p12 chr19: 55,078,205-55,078,315 , GRCh38.p12 chr19|NT_187693.1: 1,060,687-1,060,797 , GRCh38.p12 chr19|NW_003571061.2: 790,366-790,476 , GRCh38.p12 chr19|NW_003571057.2: 1,085,728-1,085,838 EPS8L1
    nsv7140946copy number variation1nstd232human GRCh37.p13 chr19: 54,710,327-54,710,416 , GRCh38.p12 chr19|NW_003571058.2: 181,441-181,530 , GRCh38.p12 chr19|NW_003571059.2: 181,441-181,530 , GRCh38.p12 chr19|NW_003571060.1: 181,430-181,519 , GRCh38.p12 chr19|NW_003571056.2: 181,441-181,530 , GRCh38.p12 chr19|NW_003571055.2: 181,441-181,530 , GRCh38.p12 chr19|NW_003571054.1: 181,258-181,347 , GRCh38.p12 chr19: 54,206,459-54,206,548 , GRCh38.p12 chr19|NT_187693.1: 181,441-181,530 , GRCh38.p12 chr19|NW_003571061.2: 181,441-181,530 , GRCh38.p12 chr19|NW_003571057.2: 181,441-181,530 RPS9
    nsv7140875copy number variation1nstd232human GRCh37.p13 chr19: 55,590,146-55,590,219 , GRCh38.p12 chr19: 55,078,778-55,078,851 , GRCh38.p12 chr19|NT_187693.1: 1,061,260-1,061,333 , GRCh38.p12 chr19|NW_003571061.2: 790,939-791,012 , GRCh38.p12 chr19|NW_003571057.2: 1,086,301-1,086,374 , GRCh38.p12 chr19|NW_003571058.2: 1,060,850-1,060,923 , GRCh38.p12 chr19|NW_003571059.2: 997,143-997,216 , GRCh38.p12 chr19|NW_003571060.1: 981,560-981,633 , GRCh38.p12 chr19|NW_003571056.2: 1,058,764-1,058,837 , GRCh38.p12 chr19|NW_003571055.2: 723,980-724,053 , GRCh38.p12 chr19|NW_003571054.1: 982,176-982,249 EPS8L1
    nsv7139815insertion1nstd232human GRCh37.p13 chr19: 55,587,471-55,587,471 , GRCh38.p12 chr19: 55,076,103-55,076,103 , GRCh38.p12 chr19|NT_187693.1: 1,058,585-1,058,585 , GRCh38.p12 chr19|NW_003571061.2: 788,264-788,264 , GRCh38.p12 chr19|NW_003571057.2: 1,083,626-1,083,626 , GRCh38.p12 chr19|NW_003571058.2: 1,058,175-1,058,175 , GRCh38.p12 chr19|NW_003571059.2: 994,468-994,468 , GRCh38.p12 chr19|NW_003571060.1: 978,885-978,885 , GRCh38.p12 chr19|NW_003571056.2: 1,056,089-1,056,089 , GRCh38.p12 chr19|NW_003571055.2: 721,305-721,305 , GRCh38.p12 chr19|NW_003571054.1: 979,501-979,501 EPS8L1
    nsv7138483insertion1nstd232human GRCh37.p13 chr19: 55,538,336-55,538,336 , GRCh38.p12 chr19: 55,026,968-55,026,968 , GRCh38.p12 chr19|NT_187693.1: 1,009,450-1,009,450 , GRCh38.p12 chr19|NW_003571061.2: 739,129-739,129 , GRCh38.p12 chr19|NW_003571057.2: 1,034,491-1,034,491 , GRCh38.p12 chr19|NW_003571058.2: 1,009,040-1,009,040 , GRCh38.p12 chr19|NW_003571059.2: 945,333-945,333 , GRCh38.p12 chr19|NW_003571060.1: 929,750-929,750 , GRCh38.p12 chr19|NW_003571056.2: 1,006,954-1,006,954 , GRCh38.p12 chr19|NW_003571055.2: 672,170-672,170 , GRCh38.p12 chr19|NW_003571054.1: 930,366-930,366 GP6, GP6-AS1
    nsv7137491copy number variation1nstd232human GRCh37.p13 chr19: 54,613,104-54,613,179 , GRCh38.p12 chr19|NW_003571058.2: 84,217-84,292 , GRCh38.p12 chr19|NW_003571059.2: 84,217-84,292 , GRCh38.p12 chr19|NW_003571060.1: 84,217-84,292 , GRCh38.p12 chr19|NW_003571056.2: 84,217-84,292 , GRCh38.p12 chr19|NW_003571055.2: 84,217-84,292 , GRCh38.p12 chr19|NW_003571054.1: 84,217-84,292 , GRCh38.p12 chr19|NW_003571061.2: 84,217-84,292 , GRCh38.p12 chr19|NW_003571057.2: 84,217-84,292 , GRCh38.p12 chr19|NT_187693.1: 84,217-84,292 TFPT
    nsv7095725copy number variation1nstd102humanPathogenic GRCh37 chr19: 54,622,530-54,626,860 , GRCh38.p12 chr19|NT_187693.1: 93,643-97,973 , GRCh38.p12 chr19|NW_003571058.2: 93,643-97,973 , GRCh38.p12 chr19|NW_003571056.2: 93,643-97,973 , GRCh38.p12 chr19|NW_003571055.2: 93,643-97,973 , GRCh38.p12 chr19|NW_003571054.1: 93,643-97,973 , GRCh38.p12 chr19: 54,119,150-54,123,481 , GRCh38.p12 chr19|NW_003571057.2: 93,643-97,973 , GRCh38.p12 chr19|NW_003571060.1: 93,643-97,973 , GRCh38.p12 chr19|NW_003571059.2: 93,643-97,973 , GRCh38.p12 chr19|NW_003571061.2: 93,643-97,973 PRPF31
    nsv7095669copy number variation1nstd102humanUncertain significance GRCh37 chr19: 55,525,450-55,549,604 , GRCh38.p12 chr19: 55,014,082-55,038,236 , GRCh38.p12 chr19|NW_003571058.2: 996,154-1,020,308 , GRCh38.p12 chr19|NT_187693.1: 996,564-1,020,718 , GRCh38.p12 chr19|NW_003571060.1: 916,864-941,018 , GRCh38.p12 chr19|NW_003571056.2: 994,068-1,018,222 , GRCh38.p12 chr19|NW_003571059.2: 932,447-956,601 , GRCh38.p12 chr19|NW_003571054.1: 917,480-941,634 , GRCh38.p12 chr19|NW_003571061.2: 726,243-750,397 , GRCh38.p12 chr19|NW_003571057.2: 1,021,605-1,045,759 , GRCh38.p12 chr19|NW_003571055.2: 659,284-683,438 GP6-AS1, GP6
    nsv7095668copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 54,634,718-54,634,863 , GRCh38.p12 chr19: 54,131,287-54,131,432 , GRCh38.p12 chr19|NT_187693.1: 105,831-105,976 , GRCh38.p12 chr19|NW_003571061.2: 105,831-105,976 , GRCh38.p12 chr19|NW_003571057.2: 105,831-105,976 , GRCh38.p12 chr19|NW_003571058.2: 105,831-105,976 , GRCh38.p12 chr19|NW_003571059.2: 105,831-105,976 , GRCh38.p12 chr19|NW_003571060.1: 105,831-105,976 , GRCh38.p12 chr19|NW_003571056.2: 105,831-105,976 , GRCh38.p12 chr19|NW_003571055.2: 105,831-105,976 , GRCh38.p12 chr19|NW_003571054.1: 105,831-105,976 PRPF31
    nsv7095667copy number variation1nstd102humanUncertain significance GRCh37 chr19: 54,631,428-54,631,772 , GRCh38.p12 chr19|NW_003571061.2: 102,541-102,885 , GRCh38.p12 chr19|NW_003571059.2: 102,541-102,885 , GRCh38.p12 chr19: 54,128,053-54,128,397 , GRCh38.p12 chr19|NT_187693.1: 102,541-102,885 , GRCh38.p12 chr19|NW_003571057.2: 102,541-102,885 , GRCh38.p12 chr19|NW_003571060.1: 102,541-102,885 , GRCh38.p12 chr19|NW_003571058.2: 102,541-102,885 , GRCh38.p12 chr19|NW_003571056.2: 102,541-102,885 , GRCh38.p12 chr19|NW_003571055.2: 102,541-102,885 , GRCh38.p12 chr19|NW_003571054.1: 102,541-102,885 PRPF31
    nsv7095666copy number variation1nstd102humanPathogenic GRCh37 chr19: 54,626,515-54,627,192 , GRCh38.p12 chr19|NW_003571058.2: 97,628-98,305 , GRCh38.p12 chr19|NW_003571056.2: 97,628-98,305 , GRCh38.p12 chr19|NW_003571055.2: 97,628-98,305 , GRCh38.p12 chr19|NW_003571054.1: 97,628-98,305 , GRCh38.p12 chr19|NW_003571057.2: 97,628-98,305 , GRCh38.p12 chr19|NW_003571060.1: 97,628-98,305 , GRCh38.p12 chr19: 54,123,136-54,123,813 , GRCh38.p12 chr19|NT_187693.1: 97,628-98,305 , GRCh38.p12 chr19|NW_003571061.2: 97,628-98,305 , GRCh38.p12 chr19|NW_003571059.2: 97,628-98,305 PRPF31
    nsv7095295copy number variation1nstd102humanPathogenic GRCh37 chr19: 54,631,428-54,632,765 , GRCh38.p12 chr19|NW_003571057.2: 102,541-103,878 , GRCh38.p12 chr19|NW_003571060.1: 102,541-103,878 , GRCh38.p12 chr19|NW_003571061.2: 102,541-103,878 , GRCh38.p12 chr19|NW_003571059.2: 102,541-103,878 , GRCh38.p12 chr19|NW_003571056.2: 102,541-103,878 , GRCh38.p12 chr19|NW_003571055.2: 102,541-103,878 , GRCh38.p12 chr19|NW_003571054.1: 102,541-103,878 , GRCh38.p12 chr19: 54,128,053-54,129,390 , GRCh38.p12 chr19|NT_187693.1: 102,541-103,878 , GRCh38.p12 chr19|NW_003571058.2: 102,541-103,878 PRPF31
    nsv7095294copy number variation1nstd102humanPathogenic GRCh37 chr19: 54,625,219-54,628,055 , GRCh38.p12 chr19|NW_003571058.2: 96,332-99,168 , GRCh38.p12 chr19|NW_003571056.2: 96,332-99,168 , GRCh38.p12 chr19|NW_003571055.2: 96,332-99,168 , GRCh38.p12 chr19|NW_003571054.1: 96,332-99,168 , GRCh38.p12 chr19|NW_003571057.2: 96,332-99,168 , GRCh38.p12 chr19|NW_003571060.1: 96,332-99,168 , GRCh38.p12 chr19: 54,121,840-54,124,676 , GRCh38.p12 chr19|NT_187693.1: 96,332-99,168 , GRCh38.p12 chr19|NW_003571061.2: 96,332-99,168 , GRCh38.p12 chr19|NW_003571059.2: 96,332-99,168 PRPF31
    nsv7095293copy number variation1nstd102humanPathogenic GRCh37 chr19: 54,621,659-54,628,055 , GRCh38.p12 chr19|NW_003571058.2: 92,772-99,168 , GRCh38.p12 chr19|NW_003571056.2: 92,772-99,168 , GRCh38.p12 chr19|NW_003571055.2: 92,772-99,168 , GRCh38.p12 chr19|NW_003571054.1: 92,772-99,168 , GRCh38.p12 chr19|NT_187693.1: 92,772-99,168 , GRCh38.p12 chr19|NW_003571057.2: 92,772-99,168 , GRCh38.p12 chr19|NW_003571060.1: 92,772-99,168 , GRCh38.p12 chr19: 54,118,279-54,124,676 , GRCh38.p12 chr19|NW_003571061.2: 92,772-99,168 , GRCh38.p12 chr19|NW_003571059.2: 92,772-99,168 PRPF31
    nsv7095223copy number variation1nstd102humanPathogenic GRCh37 chr19: 54,627,858-54,628,055 , GRCh38.p12 chr19|NW_003571057.2: 98,971-99,168 , GRCh38.p12 chr19|NW_003571054.1: 98,971-99,168 , GRCh38.p12 chr19: 54,124,479-54,124,676 , GRCh38.p12 chr19|NW_003571060.1: 98,971-99,168 , GRCh38.p12 chr19|NT_187693.1: 98,971-99,168 , GRCh38.p12 chr19|NW_003571058.2: 98,971-99,168 , GRCh38.p12 chr19|NW_003571056.2: 98,971-99,168 , GRCh38.p12 chr19|NW_003571055.2: 98,971-99,168 , GRCh38.p12 chr19|NW_003571061.2: 98,971-99,168 , GRCh38.p12 chr19|NW_003571059.2: 98,971-99,168 PRPF31
    nsv7095222copy number variation1nstd102humanPathogenic GRCh37 chr19: 54,625,219-54,630,012 , GRCh38.p12 chr19|NT_187693.1: 96,332-101,125 , GRCh38.p12 chr19|NW_003571058.2: 96,332-101,125 , GRCh38.p12 chr19|NW_003571056.2: 96,332-101,125 , GRCh38.p12 chr19|NW_003571055.2: 96,332-101,125 , GRCh38.p12 chr19|NW_003571054.1: 96,332-101,125 , GRCh38.p12 chr19: 54,121,840-54,126,637 , GRCh38.p12 chr19|NW_003571061.2: 96,332-101,125 , GRCh38.p12 chr19|NW_003571059.2: 96,332-101,125 , GRCh38.p12 chr19|NW_003571057.2: 96,332-101,125 , GRCh38.p12 chr19|NW_003571060.1: 96,332-101,125 PRPF31
    nsv6625442copy number variation1nstd224human GRCh37 chr19: 55,449,436-55,527,081 , GRCh38.p12 chr19: 54,938,068-55,015,713 , GRCh38.p12 chr19|NT_187693.1: 920,550-998,195 , GRCh38.p12 chr19|NW_003571061.2: 650,229-727,874 , GRCh38.p12 chr19|NW_003571057.2: 945,591-1,023,236 , GRCh38.p12 chr19|NW_003571058.2: 920,140-997,785 , GRCh38.p12 chr19|NW_003571059.2: 856,433-934,078 , GRCh38.p12 chr19|NW_003571060.1: 842,420-918,495 , GRCh38.p12 chr19|NW_003571056.2: 918,054-995,699 , GRCh38.p12 chr19|NW_003571055.2: 583,270-660,915 , GRCh38.p12 chr19|NW_003571054.1: 841,466-919,111 NCR1, GP6, 4 more genes
    nsv6625310copy number variation1nstd224human GRCh37 chr19: 55,524,813-55,562,374 , GRCh38.p12 chr19: 55,013,445-55,051,006 , GRCh38.p12 chr19|NT_187693.1: 995,927-1,033,488 , GRCh38.p12 chr19|NW_003571061.2: 725,606-763,167 , GRCh38.p12 chr19|NW_003571057.2: 1,020,968-1,058,529 , GRCh38.p12 chr19|NW_003571058.2: 995,517-1,033,078 , GRCh38.p12 chr19|NW_003571059.2: 931,810-969,371 , GRCh38.p12 chr19|NW_003571060.1: 916,227-953,788 , GRCh38.p12 chr19|NW_003571056.2: 993,431-1,030,992 , GRCh38.p12 chr19|NW_003571055.2: 658,647-696,208 , GRCh38.p12 chr19|NW_003571054.1: 916,843-954,404 GP6, RDH13, 1 more genes
    nsv6625260copy number variation1nstd224human GRCh37 chr19: 55,535,289-55,550,312 , GRCh38.p12 chr19: 55,023,921-55,038,944 , GRCh38.p12 chr19|NT_187693.1: 1,006,403-1,021,426 , GRCh38.p12 chr19|NW_003571061.2: 736,082-751,105 , GRCh38.p12 chr19|NW_003571057.2: 1,031,444-1,046,467 , GRCh38.p12 chr19|NW_003571058.2: 1,005,993-1,021,016 , GRCh38.p12 chr19|NW_003571059.2: 942,286-957,309 , GRCh38.p12 chr19|NW_003571060.1: 926,703-941,726 , GRCh38.p12 chr19|NW_003571056.2: 1,003,907-1,018,930 , GRCh38.p12 chr19|NW_003571055.2: 669,123-684,146 , GRCh38.p12 chr19|NW_003571054.1: 927,319-942,342 GP6, RDH13, 1 more genes
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