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Items: 1 to 20 of 393

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7047501inversion1nstd229human GRCh38 chr2: 168,792,093-168,866,588 , GRCh37.p13 chr2: 169,648,603-169,723,098 SPC25, NOSTRIN
    nsv7046861inversion1nstd229human GRCh38 chr2: 168,792,170-168,866,578 , GRCh37.p13 chr2: 169,648,680-169,723,088 NOSTRIN, SPC25
    nsv6698060copy number variation1nstd229human GRCh38 chr2: 168,845,584-169,182,309 , GRCh37.p13 chr2: 169,702,094-170,038,819 LRP2, ABCB11, 5 more genes
    nsv6695070copy number variation1nstd229human GRCh38 chr2: 168,818,801-168,820,600 , GRCh37.p13 chr2: 169,675,311-169,677,110 NOSTRIN
    nsv6693903copy number variation1nstd229human GRCh38 chr2: 168,853,564-168,853,757 , GRCh37.p13 chr2: 169,710,074-169,710,267 NOSTRIN
    nsv6690657copy number variation1nstd229human GRCh38 chr2: 168,778,412-168,785,411 , GRCh37.p13 chr2: 169,634,922-169,641,921 CERS6-AS1, NOSTRIN
    nsv6690525copy number variation1nstd229human GRCh38 chr2: 168,799,187-168,812,702 , GRCh37.p13 chr2: 169,655,697-169,669,212 NOSTRIN
    nsv6687856copy number variation1nstd229human GRCh38 chr2: 168,821,154-168,838,918 , GRCh37.p13 chr2: 169,677,664-169,695,428 NOSTRIN
    nsv6686480copy number variation1nstd229human GRCh38 chr2: 168,812,513-168,845,930 , GRCh37.p13 chr2: 169,669,023-169,702,440 NOSTRIN
    nsv6684462copy number variation1nstd229human GRCh38 chr2: 168,746,901-168,823,000 , GRCh37.p13 chr2: 169,603,411-169,679,510 CERS6-AS1, CERS6, 1 more genes
    nsv6678900copy number variation1nstd229human GRCh38 chr2: 168,515,191-170,305,528 , GRCh37.p13 chr2: 169,371,701-171,162,038 METTL5, FASTKD1, 28 more genes
    nsv6627781copy number variation1nstd224human GRCh37 chr2: 168,698,913-170,141,066 , GRCh38.p12 chr2: 167,842,403-169,284,556 STK39, CERS6, 17 more genes
    nsv6627281copy number variation1nstd224human GRCh37 chr2: 169,668,122-169,927,200 , GRCh38.p12 chr2: 168,811,612-169,070,690 G6PC2, ABCB11, 3 more genes
    nsv6539630inversion1nstd223human GRCh38 chr2: 168,826,943-168,828,017 , GRCh37.p13 chr2: 169,683,453-169,684,527 NOSTRIN
    nsv6354771copy number variation1nstd223human GRCh38 chr2: 168,826,875-168,827,604 , GRCh37.p13 chr2: 169,683,385-169,684,114 NOSTRIN
    nsv6351412copy number variation1nstd223human GRCh38 chr2: 168,778,410-168,785,410 , GRCh37.p13 chr2: 169,634,920-169,641,920 CERS6-AS1, NOSTRIN
    nsv6346001copy number variation1nstd223human GRCh38 chr2: 168,837,301-168,838,900 , GRCh37.p13 chr2: 169,693,811-169,695,410 NOSTRIN
    nsv6340804copy number variation1nstd223human GRCh38 chr2: 168,811,501-168,814,500 , GRCh37.p13 chr2: 169,668,011-169,671,010 NOSTRIN
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 EIF3EP3, FAP, 158 more genes
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