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Items: 9

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    Number of Variants: 9

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6314542complex chromosomal rearrangement2nstd102humanPathogenic GRCh37 chr5: 88,058,972-88,058,972 , GRCh37 chr5: 88,058,972-88,058,972 , GRCh37 chr15: 100,883,141-100,883,141 , GRCh37 chr15: 100,883,143-100,883,143 , GRCh38.p12 chr15: 100,342,936-100,342,936 , GRCh38.p12 chr15: 100,342,938-100,342,938 , GRCh38.p12 chr5: 88,763,155-88,763,155 , GRCh38.p12 chr5: 88,763,155-88,763,155 MEF2C, ADAMTS17, 1 more genes
    nsv6314488complex chromosomal rearrangement2nstd102humanUncertain significance GRCh38.p12 chr14: 91,400,562-91,400,562 , GRCh38.p12 chr14: 91,400,569-91,400,569 , GRCh37 chr14: 91,866,906-91,866,906 , GRCh37 chr14: 91,866,913-91,866,913 , GRCh38.p12 chr4: 13,145,305-13,145,305 , GRCh38.p12 chr4: 13,145,305-13,145,305 , GRCh37 chr4: 13,146,929-13,146,929 , GRCh37 chr4: 13,146,929-13,146,929 CCDC88C, LOC105370624
    nsv6314475complex chromosomal rearrangement58nstd102humanPathogenic GRCh37 chr6: 56,094,063-56,094,063 , GRCh37 chr6: 56,096,669-56,096,669 , GRCh37 chr6: 57,026,055-57,026,055 , GRCh37 chr6: 61,975,508-61,975,508 , GRCh37 chr6: 62,480,442-62,480,442 , GRCh37 chr6: 63,534,863-63,534,863 , GRCh37 chr6: 63,561,825-63,561,825 , GRCh37 chr6: 64,202,012-64,202,012 , GRCh37 chr6: 64,870,751-64,870,751 , GRCh37 chr6: 64,891,990-64,891,990 , GRCh37 chr6: 65,000,979-65,000,979 , GRCh37 chr6: 65,057,269-65,057,269 , GRCh37 chr6: 66,122,630-66,122,630 , GRCh37 chr6: 66,123,127-66,123,127 , GRCh37 chr6: 66,157,097-66,157,097 , GRCh37 chr6: 76,485,649-76,485,649 , GRCh37 chr6: 76,515,789-76,515,789 , GRCh37 chr6: 76,919,675-76,919,675 , GRCh37 chr6: 77,002,011-77,002,011 , GRCh37 chr6: 78,967,112-78,967,112 , GRCh37 chr6: 79,531,252-79,531,252 , GRCh37 chr6: 79,719,717-79,719,717 , GRCh37 chr6: 80,061,147-80,061,147 , GRCh37 chr6: 80,214,905-80,214,905 , GRCh37 chr6: 150,185,328-150,185,328 , GRCh37 chr6: 151,450,983-151,450,983 , GRCh37 chr11: 28,579,817-28,579,817 , GRCh37 chr6: 57,199,608-57,199,608 , GRCh37 chr6: 58,601,284-58,601,284 , GRCh37 chr6: 58,601,405-58,601,405 , GRCh37 chr6: 63,561,903-63,561,903 , GRCh37 chr6: 64,198,096-64,198,096 , GRCh37 chr6: 64,198,142-64,198,142 , GRCh37 chr6: 64,864,899-64,864,899 , GRCh37 chr6: 64,937,358-64,937,358 , GRCh37 chr6: 65,000,789-65,000,789 , GRCh37 chr6: 65,032,238-65,032,238 , GRCh37 chr6: 66,157,097-66,157,097 , GRCh37 chr6: 76,423,464-76,423,464 , GRCh37 chr6: 76,515,755-76,515,755 , GRCh37 chr6: 76,528,622-76,528,622 , GRCh37 chr6: 77,002,409-77,002,409 , GRCh37 chr6: 77,911,269-77,911,269 , GRCh37 chr6: 78,223,411-78,223,411 , GRCh37 chr6: 78,476,750-78,476,750 , GRCh37 chr6: 78,572,454-78,572,454 , GRCh37 chr6: 78,646,037-78,646,037 , GRCh37 chr6: 79,720,394-79,720,394 , GRCh37 chr6: 79,864,195-79,864,195 , GRCh37 chr6: 79,864,646-79,864,646 , GRCh37 chr6: 80,061,452-80,061,452 , GRCh37 chr6: 80,214,588-80,214,588 , GRCh37 chr6: 80,947,519-80,947,519 , GRCh37 chr6: 80,947,588-80,947,588 , GRCh37 chr6: 85,867,108-85,867,108 , GRCh37 chr6: 145,926,175-145,926,175 , GRCh37 chr6: 149,007,795-149,007,795 , GRCh37 chr6: 151,451,094-151,451,094 , GRCh37 chr6: 56,096,563-56,096,563 , GRCh37 chr6: 57,025,985-57,025,985 , GRCh37 chr6: 57,408,943-57,408,943 , GRCh37 chr6: 58,267,334-58,267,334 , GRCh37 chr6: 58,597,043-58,597,043 , GRCh37 chr6: 62,478,967-62,478,967 , GRCh37 chr6: 64,892,185-64,892,185 , GRCh37 chr6: 64,936,944-64,936,944 , GRCh37 chr6: 65,010,342-65,010,342 , GRCh37 chr6: 65,012,156-65,012,156 , GRCh37 chr6: 66,422,452-66,422,452 , GRCh37 chr6: 76,429,273-76,429,273 , GRCh37 chr6: 76,524,459-76,524,459 , GRCh37 chr6: 76,528,554-76,528,554 , GRCh37 chr11: 28,579,922-28,579,922 , GRCh37 chr11: 28,601,538-28,601,538 , GRCh37 chr11: 28,601,640-28,601,640 , GRCh37 chr6: 56,094,236-56,094,236 , GRCh37 chr6: 56,508,757-56,508,757 , GRCh37 chr6: 56,508,873-56,508,873 , GRCh37 chr6: 57,206,042-57,206,042 , GRCh37 chr6: 57,409,986-57,409,986 , GRCh37 chr6: 58,269,591-58,269,591 , GRCh37 chr6: 58,596,913-58,596,913 , GRCh37 chr6: 61,976,947-61,976,947 , GRCh37 chr6: 63,534,833-63,534,833 , GRCh37 chr6: 64,002,562-64,002,562 , GRCh37 chr6: 64,002,728-64,002,728 , GRCh37 chr6: 64,202,117-64,202,117 , GRCh37 chr6: 66,422,452-66,422,452 , GRCh37 chr6: 76,423,520-76,423,520 , GRCh37 chr6: 76,429,173-76,429,173 , GRCh37 chr6: 76,486,633-76,486,633 , GRCh37 chr6: 76,524,484-76,524,484 , GRCh37 chr6: 76,919,113-76,919,113 , GRCh37 chr6: 78,209,979-78,209,979 , GRCh37 chr6: 78,571,397-78,571,397 , GRCh37 chr6: 79,036,607-79,036,607 , GRCh37 chr6: 81,076,788-81,076,788 , GRCh37 chr6: 149,007,721-149,007,721 , GRCh37 chr6: 76,980,890-76,980,890 , GRCh37 chr6: 76,981,261-76,981,261 , GRCh37 chr6: 77,911,172-77,911,172 , GRCh37 chr6: 78,021,944-78,021,944 , GRCh37 chr6: 78,022,085-78,022,085 , GRCh37 chr6: 78,210,107-78,210,107 , GRCh37 chr6: 78,223,113-78,223,113 , GRCh37 chr6: 78,477,448-78,477,448 , GRCh37 chr6: 78,521,693-78,521,693 , GRCh37 chr6: 78,521,917-78,521,917 , GRCh37 chr6: 78,657,051-78,657,051 , GRCh37 chr6: 79,244,304-79,244,304 , GRCh37 chr6: 79,244,983-79,244,983 , GRCh37 chr6: 79,521,052-79,521,052 , GRCh37 chr6: 81,077,058-81,077,058 , GRCh37 chr6: 85,867,241-85,867,241 , GRCh37 chr6: 145,926,250-145,926,250 , GRCh37 chr6: 150,187,933-150,187,933 , GRCh38.p12 chr11: 28,558,270-28,558,270 , GRCh38.p12 chr11: 28,558,375-28,558,375 , GRCh38.p12 chr11: 28,580,093-28,580,093 , GRCh38.p12 chr6: 56,229,265-56,229,265 , GRCh38.p12 chr6: 56,231,765-56,231,765 , GRCh38.p12 chr6: 56,644,075-56,644,075 , GRCh38.p12 chr6: 57,161,187-57,161,187 , GRCh38.p12 chr6: 57,341,244-57,341,244 , GRCh38.p12 chr6: 57,943,313-57,943,313 , GRCh38.p12 chr6: 58,275,127-58,275,127 , GRCh38.p12 chr6: 61,260,767-61,260,767 , GRCh38.p12 chr6: 61,769,062-61,769,062 , GRCh38.p12 chr6: 62,851,920-62,851,920 , GRCh38.p12 chr6: 63,492,107-63,492,107 , GRCh38.p12 chr6: 64,182,097-64,182,097 , GRCh38.p12 chr6: 64,290,896-64,290,896 , GRCh38.p12 chr6: 64,291,086-64,291,086 , GRCh38.p12 chr6: 64,347,376-64,347,376 , GRCh38.p12 chr6: 65,712,559-65,712,559 , GRCh38.p12 chr6: 75,713,748-75,713,748 , GRCh38.p12 chr6: 75,775,932-75,775,932 , GRCh38.p12 chr6: 75,776,916-75,776,916 , GRCh38.p12 chr6: 75,806,038-75,806,038 , GRCh38.p12 chr6: 75,818,905-75,818,905 , GRCh38.p12 chr6: 76,209,958-76,209,958 , GRCh38.p12 chr6: 76,271,544-76,271,544 , GRCh38.p12 chr6: 77,500,262-77,500,262 , GRCh38.p12 chr6: 77,500,390-77,500,390 , GRCh38.p12 chr6: 77,513,396-77,513,396 , GRCh38.p12 chr6: 77,812,200-77,812,200 , GRCh38.p12 chr6: 77,862,737-77,862,737 , GRCh38.p12 chr6: 78,257,395-78,257,395 , GRCh38.p12 chr6: 78,326,890-78,326,890 , GRCh38.p12 chr6: 79,010,000-79,010,000 , GRCh38.p12 chr6: 79,504,871-79,504,871 , GRCh38.p12 chr6: 85,157,390-85,157,390 , GRCh38.p12 chr6: 145,605,039-145,605,039 , GRCh38.p12 chr6: 151,129,847-151,129,847 , GRCh38.p12 chr6: 151,129,958-151,129,958 , GRCh38.p12 chr6: 56,231,871-56,231,871 , GRCh38.p12 chr6: 57,161,257-57,161,257 , GRCh38.p12 chr6: 57,334,810-57,334,810 , GRCh38.p12 chr6: 57,941,056-57,941,056 , GRCh38.p12 chr6: 58,270,635-58,270,635 , GRCh38.p12 chr6: 61,262,206-61,262,206 , GRCh38.p12 chr6: 61,770,537-61,770,537 , GRCh38.p12 chr6: 63,292,657-63,292,657 , GRCh38.p12 chr6: 63,292,823-63,292,823 , GRCh38.p12 chr6: 63,492,212-63,492,212 , GRCh38.p12 chr6: 64,182,292-64,182,292 , GRCh38.p12 chr6: 64,227,465-64,227,465 , GRCh38.p12 chr6: 64,300,449-64,300,449 , GRCh38.p12 chr6: 64,302,263-64,302,263 , GRCh38.p12 chr6: 65,413,234-65,413,234 , GRCh38.p12 chr6: 75,806,072-75,806,072 , GRCh38.p12 chr6: 77,201,552-77,201,552 , GRCh38.p12 chr6: 77,767,033-77,767,033 , GRCh38.p12 chr6: 77,936,320-77,936,320 , GRCh38.p12 chr6: 77,947,334-77,947,334 , GRCh38.p12 chr6: 78,535,266-78,535,266 , GRCh38.p12 chr6: 78,821,535-78,821,535 , GRCh38.p12 chr6: 79,010,677-79,010,677 , GRCh38.p12 chr6: 80,237,871-80,237,871 , GRCh38.p12 chr6: 85,157,523-85,157,523 , GRCh38.p12 chr6: 148,686,585-148,686,585 , GRCh38.p12 chr6: 149,866,797-149,866,797 , GRCh38.p12 chr6|NW_003315921.1: 123,314-123,314 , GRCh38.p12 chr6|NW_012132918.1: 137,163-137,163 , GRCh38.p12 chr6: 56,643,959-56,643,959 , GRCh38.p12 chr6: 58,275,006-58,275,006 , GRCh38.p12 chr6: 60,441,196-60,441,196 , GRCh38.p12 chr6: 62,824,928-62,824,928 , GRCh38.p12 chr6: 64,160,858-64,160,858 , GRCh38.p12 chr6: 64,322,345-64,322,345 , GRCh38.p12 chr6: 65,412,737-65,412,737 , GRCh38.p12 chr6: 65,447,204-65,447,204 , GRCh38.p12 chr6: 75,713,804-75,713,804 , GRCh38.p12 chr6: 75,719,457-75,719,457 , GRCh38.p12 chr6: 76,209,396-76,209,396 , GRCh38.p12 chr6: 76,271,173-76,271,173 , GRCh38.p12 chr6: 76,292,294-76,292,294 , GRCh38.p12 chr6: 77,201,455-77,201,455 , GRCh38.p12 chr6: 77,312,368-77,312,368 , GRCh38.p12 chr6: 77,811,976-77,811,976 , GRCh38.p12 chr6: 78,534,587-78,534,587 , GRCh38.p12 chr6: 78,811,335-78,811,335 , GRCh38.p12 chr6: 79,154,929-79,154,929 , GRCh38.p12 chr6: 79,351,430-79,351,430 , GRCh38.p12 chr6|NW_012132918.1: 138,602-138,602 , GRCh38.p12 chr11: 28,579,991-28,579,991 , GRCh38.p12 chr6: 56,229,438-56,229,438 , GRCh38.p12 chr6: 58,270,765-58,270,765 , GRCh38.p12 chr6: 60,442,239-60,442,239 , GRCh38.p12 chr6: 62,824,958-62,824,958 , GRCh38.p12 chr6: 62,851,998-62,851,998 , GRCh38.p12 chr6: 63,488,191-63,488,191 , GRCh38.p12 chr6: 63,488,237-63,488,237 , GRCh38.p12 chr6: 64,155,006-64,155,006 , GRCh38.p12 chr6: 64,227,051-64,227,051 , GRCh38.p12 chr6: 65,447,204-65,447,204 , GRCh38.p12 chr6: 65,712,559-65,712,559 , GRCh38.p12 chr6: 75,719,557-75,719,557 , GRCh38.p12 chr6: 75,814,742-75,814,742 , GRCh38.p12 chr6: 75,814,767-75,814,767 , GRCh38.p12 chr6: 75,818,837-75,818,837 , GRCh38.p12 chr6: 76,292,692-76,292,692 , GRCh38.p12 chr6: 77,312,227-77,312,227 , GRCh38.p12 chr6: 77,513,694-77,513,694 , GRCh38.p12 chr6: 77,767,731-77,767,731 , GRCh38.p12 chr6: 77,861,680-77,861,680 , GRCh38.p12 chr6: 79,154,478-79,154,478 , GRCh38.p12 chr6: 79,351,735-79,351,735 , GRCh38.p12 chr6: 79,505,188-79,505,188 , GRCh38.p12 chr6: 80,237,802-80,237,802 , GRCh38.p12 chr6: 80,367,071-80,367,071 , GRCh38.p12 chr6: 80,367,341-80,367,341 , GRCh38.p12 chr6: 145,605,114-145,605,114 , GRCh38.p12 chr6: 148,686,659-148,686,659 , GRCh38.p12 chr6: 149,864,192-149,864,192 , GRCh38.p12 chr6|NW_003315921.1: 123,009-123,009 EYS, ZNF451, 23 more genes
    nsv6314424complex chromosomal rearrangement2nstd102humanUncertain significance GRCh37 chr20: 53,969,636-53,969,636 , GRCh37 chr20: 53,969,640-53,969,640 , GRCh38.p12 chr20: 55,353,097-55,353,097 , GRCh38.p12 chr20: 55,353,101-55,353,101 , GRCh38.p12 chr16: 46,395,571-46,395,571 , GRCh38.p12 chr16: 46,395,575-46,395,575 , GRCh37 chr16: 46,403,287-46,403,287 , GRCh37 chr16: 46,403,291-46,403,291 0
    nsv6314335complex chromosomal rearrangement8nstd102humanPathogenic GRCh37 chr6: 9,920,746-9,920,746 , GRCh37 chr6: 80,165,566-80,165,566 , GRCh37 chr6: 89,341,348-89,341,348 , GRCh37 chr6: 70,100,804-70,100,804 , GRCh37 chr6: 9,920,743-9,920,743 , GRCh37 chr6: 70,100,804-70,100,804 , GRCh37 chr6: 80,165,566-80,165,566 , GRCh37 chr6: 89,341,339-89,341,339 , GRCh37 chr12: 104,672,817-104,672,817 , GRCh37 chr12: 104,672,818-104,672,818 , GRCh37 chr20: 5,393,968-5,393,968 , GRCh37 chr20: 6,051,085-6,051,085 , GRCh37 chr20: 6,689,151-6,689,151 , GRCh37 chr20: 5,393,968-5,393,968 , GRCh37 chr20: 6,689,150-6,689,150 , GRCh37 chr20: 6,051,085-6,051,085 , GRCh38.p12 chr12: 104,279,039-104,279,039 , GRCh38.p12 chr12: 104,279,040-104,279,040 , GRCh38.p12 chr20: 5,413,322-5,413,322 , GRCh38.p12 chr20: 5,413,322-5,413,322 , GRCh38.p12 chr20: 6,708,503-6,708,503 , GRCh38.p12 chr20: 6,708,504-6,708,504 , GRCh38.p12 chr20: 6,070,439-6,070,439 , GRCh38.p12 chr20: 6,070,439-6,070,439 , GRCh38.p12 chr6: 79,455,849-79,455,849 , GRCh38.p12 chr6: 79,455,849-79,455,849 , GRCh38.p12 chr6: 88,631,629-88,631,629 , GRCh38.p12 chr6: 9,920,510-9,920,510 , GRCh38.p12 chr6: 69,390,912-69,390,912 , GRCh38.p12 chr6: 9,920,513-9,920,513 , GRCh38.p12 chr6: 88,631,620-88,631,620 , GRCh38.p12 chr6: 69,390,912-69,390,912 OFCC1, TXNRD1, 2 more genes
    nsv6314273complex chromosomal rearrangement9nstd102humanPathogenic GRCh37 chr10: 43,970,076-43,970,076 , GRCh37 chr10: 74,987,633-74,987,633 , GRCh37 chr10: 103,789,246-103,789,246 , GRCh37 chr10: 103,989,173-103,989,173 , GRCh37 chr10: 43,970,076-43,970,076 , GRCh37 chr10: 70,451,274-70,451,274 , GRCh37 chr10: 98,467,287-98,467,287 , GRCh37 chr10: 103,789,246-103,789,246 , GRCh37 chr10: 43,841,488-43,841,488 , GRCh37 chr10: 46,951,966-46,951,966 , GRCh37 chr10: 70,451,274-70,451,274 , GRCh37 chr10: 98,467,287-98,467,287 , GRCh37 chr10: 98,644,903-98,644,903 , GRCh37 chr10: 98,644,903-98,644,903 , GRCh37 chr10: 43,841,488-43,841,488 , GRCh37 chr10: 46,950,701-46,950,701 , GRCh37 chr10: 74,987,633-74,987,633 , GRCh37 chr10: 103,989,173-103,989,173 , GRCh38.p12 chr10: 43,474,628-43,474,628 , GRCh38.p12 chr10: 46,597,651-46,597,651 , GRCh38.p12 chr10: 68,691,517-68,691,517 , GRCh38.p12 chr10: 96,707,530-96,707,530 , GRCh38.p12 chr10: 96,885,146-96,885,146 , GRCh38.p12 chr10: 102,029,489-102,029,489 , GRCh38.p12 chr10: 43,346,040-43,346,040 , GRCh38.p12 chr10: 46,598,916-46,598,916 , GRCh38.p12 chr10: 96,707,530-96,707,530 , GRCh38.p12 chr10: 96,885,146-96,885,146 , GRCh38.p12 chr10: 102,229,416-102,229,416 , GRCh38.p12 chr10: 43,346,040-43,346,040 , GRCh38.p12 chr10: 68,691,517-68,691,517 , GRCh38.p12 chr10: 73,227,875-73,227,875 , GRCh38.p12 chr10: 102,229,416-102,229,416 , GRCh38.p12 chr10: 43,474,628-43,474,628 , GRCh38.p12 chr10: 73,227,875-73,227,875 , GRCh38.p12 chr10: 102,029,489-102,029,489 LOC105378289, LOC105378271, 10 more genes
    nsv5381762copy number variation1nstd102humanPathogenic GRCh37 chr9: 139,284,464-141,018,984 , GRCh38.p12 chr9: 136,390,012-138,124,532 ARRDC1, SETP5, 101 more genes
    nsv5200387copy number variation1nstd102humanPathogenic GRCh37 chr22: 18,909,044-21,464,119 , GRCh38.p12 chr22: 18,339,130-21,109,830 POM121L15P, TRMT2A, 124 more genes
    nsv3901951copy number variation1nstd102humanUncertain significance GRCh37 chr6: 156,772,218-157,870,875 , GRCh38.p12 chr6: 156,451,084-157,449,843 LOC105378076, NMTRV-TAC1-1, 11 more genes
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