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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv2817540copy number variation1nstd137human GRCh38 (hg38) chr8: 109,498,079-109,498,400 , GRCh37 (hg19) chr8: 110,510,308-110,510,629 PKHD1L1
    nsv2814953insertion1nstd137human GRCh38 (hg38) chr6: 52,064,865-52,064,865 , GRCh37 (hg19) chr6: 51,929,663-51,929,663 PKHD1
    nsv2814566insertion1nstd137human GRCh38 (hg38) chr6: 51,989,902-51,989,902 , GRCh37 (hg19) chr6: 51,854,700-51,854,700 PKHD1
    nsv2814565insertion1nstd137human GRCh38 (hg38) chr6: 51,982,191-51,982,191 , GRCh37 (hg19) chr6: 51,846,989-51,846,989 PKHD1
    nsv2814564insertion2nstd137human GRCh38 (hg38) chr6: 51,981,345-51,981,345 , GRCh37 (hg19) chr6: 51,846,143-51,846,143 PKHD1
    nsv2814169insertion2nstd137human GRCh38 (hg38) chr6: 51,989,930-51,989,930 , GRCh37 (hg19) chr6: 51,854,728-51,854,728 PKHD1
    nsv2814168insertion1nstd137human GRCh38 (hg38) chr6: 51,982,176-51,982,176 , GRCh37 (hg19) chr6: 51,846,974-51,846,974 PKHD1
    nsv2814166copy number variation1nstd137human GRCh38 (hg38) chr6: 51,874,765-51,880,802 , GRCh37 (hg19) chr6: 51,739,563-51,745,600 PKHD1
    nsv2814165copy number variation1nstd137human GRCh38 (hg38) chr6: 51,871,313-51,872,007 , GRCh37 (hg19) chr6: 51,736,111-51,736,805 PKHD1
    nsv2814164copy number variation1nstd137human GRCh38 (hg38) chr6: 51,652,552-51,652,877 , GRCh37 (hg19) chr6: 51,517,350-51,517,675 PKHD1
    nsv2813400insertion1nstd137human GRCh38 (hg38) chr6: 51,982,218-51,982,218 , GRCh37 (hg19) chr6: 51,847,016-51,847,016 PKHD1
    nsv2813399insertion1nstd137human GRCh38 (hg38) chr6: 51,981,308-51,981,308 , GRCh37 (hg19) chr6: 51,846,106-51,846,106 PKHD1
    esv4003204copy number variation1estd231human GRCh37 (hg19) chr6: 51,739,567-51,745,606 , GRCh38 (hg38) chr6: 51,874,769-51,880,808 PKHD1
    esv4003202copy number variation1estd231human GRCh37 (hg19) chr6: 51,517,349-51,517,675 , GRCh38 (hg38) chr6: 51,652,551-51,652,877 PKHD1
    esv4004230copy number variation1estd231human GRCh37 (hg19) chr8: 110,510,307-110,510,629 , GRCh38 (hg38) chr8: 109,498,078-109,498,400 PKHD1L1
    esv4003203copy number variation1estd231human GRCh37 (hg19) chr6: 51,736,109-51,736,804 , GRCh38 (hg38) chr6: 51,871,311-51,872,006 PKHD1
    nsv2779086copy number variation2nstd37humanPathogenic GRCh37 (hg19) chr6: 156,975-170,919,482 , GRCh38 (hg38) chr6: 156,975-170,610,394 , NCBI36 (hg18) chr6: 101,975-170,761,407 TRA-AGC11-1, LIN28B-AS1, 1408 more genes
    nsv2778322copy number variation1nstd37humanPathogenic GRCh37 (hg19) chr19: 54,344,821-58,956,888 , GRCh38 (hg38) chr19: 53,841,567-58,445,521 , NCBI36 (hg18) chr19: 59,036,633-63,648,700 A1BG, MIMT1, 178 more genes
    nsv2778129copy number variation1nstd37humanPathogenic GRCh37 (hg19) chr1: 241,601,964-249,224,684 , GRCh38 (hg38) chr1: 241,438,664-248,930,485 , NCBI36 (hg18) chr1: 239,668,587-247,191,307 AKT3, KIF28P, 94 more genes
    nsv2777932copy number variation1nstd37humanPathogenic GRCh37 (hg19) chr8: 98,432,250-146,222,672 , GRCh38 (hg38) chr8: 97,420,022-144,997,286 , NCBI36 (hg18) chr8: 98,501,426-146,193,476 MIR875, MIR937, 322 more genes
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