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Items: 1 to 20 of 1244

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148112copy number variation1nstd102humanPathogenic GRCh37 chr16: 15,489,453-18,321,582 , GRCh38.p12 chr16: 15,395,596-18,227,725 , GRCh38.p12 chr16|NT_187607.1: 1,053,559-2,659,700 MIR484, NDE1, 37 more genes
    nsv7148105copy number variation1nstd102humanPathogenic GRCh37 chr16: 15,475,455-16,308,356 , GRCh38.p12 chr16: 15,381,598-16,214,499 , GRCh38.p12 chr16|NT_187607.1: 1,039,549-1,872,496 NDE1, RPL15P20, 15 more genes
    nsv7148099copy number variation1nstd102humanPathogenic GRCh37 chr16: 15,125,542-16,388,672 , GRCh38.p12 chr16: 15,031,685-16,294,815 , GRCh38.p12 chr16|NT_187607.1: 1,015,619-1,952,820 LOC100505915, ABCC1, 28 more genes
    nsv7148091copy number variation1nstd102humanPathogenic GRCh37 chr16: 14,853,752-16,666,672 , GRCh38.p12 chr16: 14,759,895-16,572,815 RPL17P40, PKD1P3-NPIPA1, 54 more genes
    nsv7137121copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 14,819,740-16,364,041 , GRCh38.p12 chr16: 14,725,883-16,270,184 , GRCh38.p12 chr16|NT_187607.1: 266,171-1,928,187 ABCC6, ABCC1, 54 more genes
    nsv7099031copy number variation1nstd102humanUncertain significance GRCh38 chr16: 14,683,149-16,205,174 , GRCh37.p13 chr16: 14,777,006-16,299,031 LOC100288162, LOC105371096, 43 more genes
    nsv7098843copy number variation1nstd102humanLikely pathogenic GRCh38 chr16: 14,683,149-16,536,956 , GRCh37.p13 chr16: 14,777,006-16,630,813 ABCC6, ABCC1, 56 more genes
    nsv7094813copy number variation1nstd102humanUncertain significance GRCh37 chr16: 15,838,966-15,850,391 , GRCh38.p12 chr16: 15,745,109-15,756,534 , GRCh38.p12 chr16|NT_187607.1: 1,403,120-1,414,545 MYH11
    nsv7094759copy number variation1nstd102humanPathogenic GRCh37 chr16: 15,892,497-15,892,564 , GRCh38.p12 chr16: 15,798,640-15,798,707 , GRCh38.p12 chr16|NT_187607.1: 1,456,621-1,456,688 MYH11
    nsv7094758copy number variation1nstd102humanUncertain significance GRCh37 chr16: 15,857,633-15,857,768 , GRCh38.p12 chr16: 15,763,776-15,763,911 , GRCh38.p12 chr16|NT_187607.1: 1,421,787-1,421,922 MYH11
    nsv7094757copy number variation1nstd102humanUncertain significance GRCh37 chr16: 15,808,746-15,818,869 , GRCh38.p12 chr16: 15,714,889-15,725,012 , GRCh38.p12 chr16|NT_187607.1: 1,372,900-1,383,023 MYH11, NDE1
    nsv7094650copy number variation1nstd102humanPathogenic GRCh37 chr16: 15,826,401-15,829,455 , GRCh38.p12 chr16|NT_187607.1: 1,390,555-1,393,609 , GRCh38.p12 chr16: 15,732,544-15,735,598 MYH11
    nsv7094558copy number variation1nstd102humanPathogenic GRCh37 chr16: 15,832,402-15,850,391 , GRCh38.p12 chr16: 15,738,545-15,756,534 , GRCh38.p12 chr16|NT_187607.1: 1,396,556-1,414,545 MYH11
    nsv7093396copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 14,927,709-16,484,731 , GRCh38.p12 chr16: 14,833,852-16,390,874 ABCC6, ABCC1, 50 more genes
    nsv7076939inversion1nstd229human GRCh38 chr16: 15,569,413-22,730,334 , GRCh37.p13 chr16: 15,663,270-22,741,655 ACSM5P1, RNU6-213P, 154 more genes
    nsv7067918inversion1nstd229human GRCh38 chr16: 14,867,200-18,528,889 , GRCh37.p13 chr16: 14,961,057-18,540,211 NPIPA1, NDE1, 80 more genes
    nsv7066617inversion1nstd229human GRCh38 chr16: 15,099,482-15,834,316 , GRCh37.p13 chr16: 15,193,339-15,928,173 MARF1, NDE1, 16 more genes
    nsv7066082inversion1nstd229human GRCh38 chr16: 15,790,113-15,794,011 , GRCh37.p13 chr16: 15,883,970-15,887,868 MYH11
    nsv7064706inversion1nstd229human GRCh38 chr16: 15,840,551-16,214,594 , GRCh37.p13 chr16: 15,934,408-16,308,451 ABCC6, LOC107984869, 7 more genes
    nsv7059035inversion1nstd229human GRCh38 chr16: 15,565,040-16,913,283 , GRCh37.p13 chr16: 15,658,897-17,007,140 PKD1P2, MIR3179-2, 25 more genes
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