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Items: 1 to 20 of 183

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099200copy number variation1nstd231human GRCh38.p12 chr1: 48,332,143-48,859,618 , GRCh37 chr1: 48,797,815-49,325,290 SPATA6, BEND5, 5 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv7050558inversion1nstd229human GRCh38 chr1: 48,116,108-48,813,202 , GRCh37.p13 chr1: 48,581,780-49,278,874 RPL21P25, SKINT1L, 9 more genes
    nsv6651045copy number variation1nstd229human GRCh38 chr1: 48,763,672-48,766,033 , GRCh37.p13 chr1: 49,229,344-49,231,705 BEND5, AGBL4
    nsv6650984copy number variation1nstd229human GRCh38 chr1: 48,765,303-48,765,439 , GRCh37.p13 chr1: 49,230,975-49,231,111 BEND5, AGBL4
    nsv6650983copy number variation1nstd229human GRCh38 chr1: 48,758,550-48,758,572 , GRCh37.p13 chr1: 49,224,222-49,224,244 BEND5, AGBL4
    nsv6650981copy number variation1nstd229human GRCh38 chr1: 48,742,456-48,742,572 , GRCh37.p13 chr1: 49,208,128-49,208,244 BEND5, AGBL4
    nsv6650832copy number variation1nstd229human GRCh38 chr1: 48,776,537-48,776,575 , GRCh37.p13 chr1: 49,242,209-49,242,247 AGBL4, BEND5
    nsv6650831copy number variation1nstd229human GRCh38 chr1: 48,738,541-48,928,322 , GRCh37.p13 chr1: 49,204,213-49,393,994 BEND5, AGBL4
    nsv6650312copy number variation1nstd229human GRCh38 chr1: 48,732,503-48,732,557 , GRCh37.p13 chr1: 49,198,175-49,198,229 AGBL4, BEND5
    nsv6638064copy number variation1nstd102humanassociation GRCh38 chr1: 48,666,286-52,808,894 , GRCh37.p13 chr1: 49,131,958-53,274,566 LOC105378710, RNU6-1026P, 80 more genes
    nsv6323689copy number variation1nstd223human GRCh38 chr1: 48,708,706-48,742,346 , GRCh37.p13 chr1: 49,174,378-49,208,018 BEND5, AGBL4
    nsv6320203copy number variation1nstd223human GRCh38 chr1: 47,992,330-48,762,028 , GRCh37.p13 chr1: 48,458,002-49,227,700 RNU6-723P, RNU4-61P, 11 more genes
    nsv6294823mobile element insertion1nstd186human GRCh37 chr1: 49,204,482-49,204,533 , GRCh38.p12 chr1: 48,738,810-48,738,861 BEND5, AGBL4
    nsv5958030insertion1nstd209human GRCh38 chr1: 48,742,045-48,742,045 , GRCh37.p13 chr1: 49,207,717-49,207,717 BEND5, AGBL4
    nsv5876397copy number variation1nstd209human GRCh38 chr1: 48,732,503-48,732,554 , GRCh37.p13 chr1: 49,198,175-49,198,226 AGBL4, BEND5
    nsv5679521mobile element insertion2nstd211human GRCh38 chr1: 48,738,810-48,738,810 , GRCh37.p13 chr1: 49,204,482-49,204,482 AGBL4, BEND5
    nsv5572400copy number variation1nstd207human GRCh38 chr1: 48,732,502-48,732,551 , GRCh37.p13 chr1: 49,198,174-49,198,223 AGBL4, BEND5
    nsv5415622copy number variation1nstd206human GRCh38 chr1: 48,729,674-48,734,722 , GRCh37.p13 chr1: 49,195,346-49,200,394 BEND5, AGBL4
    nsv5414774copy number variation1nstd206human GRCh38 chr1: 48,732,503-48,732,557 , GRCh37.p13 chr1: 49,198,175-49,198,229 AGBL4, BEND5
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