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Items: 1 to 20 of 316

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980457copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 21,936,726-22,461,225 , GRCh38.p12 chr16: 21,925,405-22,449,904 , GRCh38.p12 chr16|NW_017852933.1: 655,131-1,179,634 CDR2, UQCRC2, 16 more genes
    nsv5971279inversion1nstd209human GRCh38 chr16: 21,590,269-22,770,846 , GRCh37.p13 chr16: 21,601,590-22,782,167 CDR2, UQCRC2, 31 more genes
    nsv5967951inversion1nstd209human GRCh38 chr16: 13,469,401-22,726,308 , GRCh37.p13 chr16: 13,563,258-22,737,629 , ABCC6, 214 more genes
    nsv5929387copy number variation1nstd209human GRCh38 chr16: 20,698,055-24,692,430 , GRCh37.p13 chr16: 20,709,377-24,703,751 , ACSM1, 87 more genes
    nsv5666339inversion1nstd207human GRCh38 chr16: 21,502,503-22,432,381 , GRCh37.p13 chr16: 21,513,824-22,443,702 CDR2, UQCRC2, 30 more genes
    nsv5645281insertion1nstd207human GRCh38 chr16: 22,423,768-22,423,768 , GRCh37.p13 chr16: 22,435,089-22,435,089 RRN3P3
    nsv5592178copy number variation1nstd207human GRCh38 chr16: 22,436,053-22,436,739 , GRCh37.p13 chr16: 22,447,374-22,448,060 SMG1P1, RRN3P3
    nsv5591778copy number variation1nstd207human GRCh38 chr16: 22,429,477-22,429,586 , GRCh37.p13 chr16: 22,440,798-22,440,907 RRN3P3
    nsv5531854copy number variation1nstd206human GRCh38 chr16: 22,416,486-22,438,486 , GRCh37.p13 chr16: 22,427,807-22,449,807 RRN3P3, SMG1P1
    nsv5531837copy number variation1nstd206human GRCh38 chr16: 22,427,624-22,436,804 , GRCh37.p13 chr16: 22,438,945-22,448,125 RRN3P3, SMG1P1
    nsv5349559translocation1nstd200human GRCh38 chr16: 22,437,033-22,437,033 , GRCh38 chr16: 22,436,981-22,436,981 , GRCh37.p13 chr16: 22,448,302-22,448,302 , GRCh37.p13 chr16: 22,448,354-22,448,354 RRN3P3, SMG1P1
    nsv5273137copy number variation1nstd204human GRCh38.p13 chr16: 22,435,824-22,437,849 , GRCh37.p13 chr16: 22,447,145-22,449,170 RRN3P3, SMG1P1
    nsv5268971copy number variation1nstd204human GRCh38.p13 chr16: 22,430,051-22,431,065 , GRCh37.p13 chr16: 22,441,372-22,442,386 RRN3P3
    nsv5268793copy number variation1nstd204human GRCh38.p13 chr16: 22,415,616-22,448,142 , GRCh37.p13 chr16: 22,426,937-22,459,463 RRN3P3, SMG1P1
    nsv5003171copy number variation1nstd200human GRCh38 chr16: 22,427,647-22,436,762 , GRCh37.p13 chr16: 22,438,968-22,448,083 RRN3P3, SMG1P1
    nsv5003170copy number variation1nstd200human GRCh38 chr16: 22,416,639-22,430,956 , GRCh37.p13 chr16: 22,427,960-22,442,277 RRN3P3
    nsv4850713copy number variation1nstd200human GRCh37 chr16: 22,438,967-22,448,083 , GRCh38.p12 chr16: 22,427,646-22,436,762 , GRCh38.p12 chr16|NW_017852933.1: 668,277-677,393 RRN3P3, SMG1P1
    nsv4769396copy number variation1nstd102humanPathogenic GRCh37 chr16: 21,946,438-22,441,358 , GRCh38.p12 chr16|NW_017852933.1: 675,002-1,169,925 , GRCh38.p12 chr16: 21,935,117-22,430,037 ABCA3P1, CDR2-DT, 15 more genes
    nsv4756737inversion1nstd199human GRCh37 chr16: 21,594,441-22,710,750 , GRCh38.p12 chr16: 21,583,120-22,699,429 CDR2, UQCRC2, 31 more genes
    nsv4745907copy number variation1nstd199human GRCh37 chr16: 21,808,540-22,625,236 , GRCh38.p12 chr16: 21,797,219-22,613,915 LOC105371129, SDR42E2, 24 more genes
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