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Results: 1 to 20 of 970

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv1078317inversion1nstd99human GRCh37 (hg19) chr21: 27,374,191-27,374,930 , GRCh38 (hg38) chr21: 26,001,876-26,002,615 APP
    esv3660322complex1estd217human GRCh37 (hg19) chr21: 27,391,970-27,392,039 , GRCh38 (hg38) chr21: 26,019,655-26,019,724 APP
    esv3661105insertion1estd217human GRCh37 (hg19) chr21: 27,289,573-27,289,573 , GRCh38 (hg38) chr21: 25,917,261-25,917,261 APP
    esv3666947inversion1estd217human GRCh37 (hg19) chr21: 27,374,159-27,374,700 , GRCh38 (hg38) chr21: 26,001,844-26,002,385 APP
    esv3660310complex1estd217human GRCh38 (hg38) chr21: 25,979,821-25,979,894 , GRCh37 (hg19) chr21: 27,352,134-27,352,207 APP
    esv3646725copy number variation1estd214human GRCh37 (hg19) chr21: 27,308,927-27,312,421 , GRCh38 (hg38) chr21: 25,936,613-25,940,107 APP
    esv3646723mobile element insertion1estd214human GRCh37 (hg19) chr21: 27,268,190-27,268,190 , GRCh38 (hg38) chr21: 25,895,878-25,895,878 APP
    esv3646728copy number variation4estd214human GRCh37 (hg19) chr21: 27,517,714-27,522,578 , GRCh38 (hg38) chr21: 26,145,396-26,150,260 APP
    esv3646727inversion2496estd214human GRCh37 (hg19) chr21: 27,374,033-27,374,808 , GRCh38 (hg38) chr21: 26,001,718-26,002,493 APP
    esv3646726copy number variation1estd214human GRCh37 (hg19) chr21: 27,341,247-27,342,438 , GRCh38 (hg38) chr21: 25,968,934-25,970,125 APP
    esv3646724mobile element insertion4estd214human GRCh37 (hg19) chr21: 27,279,129-27,279,129 , GRCh38 (hg38) chr21: 25,906,817-25,906,817 APP
    esv3646722mobile element insertion13estd214human GRCh37 (hg19) chr21: 27,263,540-27,263,540 , GRCh38 (hg38) chr21: 25,891,228-25,891,228 APP
    nsv1067641copy number variation17nstd101humanPathogenic NCBI36 (hg18) chr21: 14,421,718-46,914,745 , GRCh37 (hg19) chr21: 15,499,847-48,090,317 , GRCh38 (hg38) chr21: 7,749,532-46,670,405 LINC00322, KRTAP25-1, 321 more genes
    esv3575384copy number variation1estd212human GRCh37 (hg19) chr21: 27,299,634-27,307,419 , GRCh38 (hg38) chr21: 25,927,322-25,935,105 APP
    esv3568139copy number variation1estd212human GRCh37 (hg19) chr21: 27,279,369-27,282,953 , GRCh38 (hg38) chr21: 25,907,057-25,910,641 APP
    esv3568140copy number variation1estd212human GRCh37 (hg19) chr21: 27,497,227-27,502,258 , GRCh38 (hg38) chr21: 26,124,910-26,129,941 APP
    nsv1066712copy number variation1nstd100human NCBI36 (hg18) chr21: 14,406,100-27,742,431 , GRCh37 (hg19) chr21: 15,484,229-28,820,560 , GRCh38 (hg38) chr21: 14,111,908-27,448,241 TRG-GCC1-5, MIR548X, 42 more genes
    nsv1066546copy number variation1nstd100human NCBI36 (hg18) chr21: 20,554,846-46,914,746 , GRCh37 (hg19) chr21: 21,632,975-48,090,318 , GRCh38 (hg38) chr21: 7,817,158-46,670,406 LINC00322, KRTAP25-1, 321 more genes
    nsv1066263copy number variation1nstd100human NCBI36 (hg18) chr21: 30,226,356-39,001,087 , GRCh37 (hg19) chr21: 31,304,485-40,079,217 , GRCh38 (hg38) chr21: 7,817,158-38,707,293 KRTAP25-1, TEKT4P2, 186 more genes
    nsv1066217copy number variation1nstd100human NCBI36 (hg18) chr21: 13,461,549-28,160,133 , GRCh37 (hg19) chr21: 14,539,678-29,238,262 , GRCh38 (hg38) chr21: 13,167,357-27,865,943 ZNF114P1, TRG-GCC1-5, 50 more genes

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