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Items: 1 to 20 of 348

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6697167copy number variation1nstd229human GRCh38 chr2: 147,858,250-147,867,243 , GRCh37.p13 chr2: 148,615,819-148,624,812 ACVR2A
    nsv6696342copy number variation1nstd229human GRCh38 chr2: 147,927,180-147,966,432 , GRCh37.p13 chr2: 148,684,749-148,724,001 ACVR2A, ORC4
    nsv6694894copy number variation1nstd229human GRCh38 chr2: 147,911,219-147,980,892 , GRCh37.p13 chr2: 148,668,788-148,738,461 ACVR2A, ORC4
    nsv6693500copy number variation1nstd229human GRCh38 chr2: 147,872,401-147,879,500 , GRCh37.p13 chr2: 148,629,970-148,637,069 RNU6-1275P, ACVR2A
    nsv6693337copy number variation1nstd229human GRCh38 chr2: 147,916,114-147,959,834 , GRCh37.p13 chr2: 148,673,683-148,717,403 ACVR2A, ORC4
    nsv6690572copy number variation1nstd229human GRCh38 chr2: 147,859,019-147,989,673 , GRCh37.p13 chr2: 148,616,588-148,747,242 ORC4, LOC105373674, 2 more genes
    nsv6681585copy number variation1nstd229human GRCh38 chr2: 147,900,417-147,968,188 , GRCh37.p13 chr2: 148,657,986-148,725,757 ORC4, ACVR2A
    nsv6538331inversion1nstd223human GRCh38 chr2: 147,882,356-147,883,226 , GRCh37.p13 chr2: 148,639,925-148,640,795 ACVR2A
    nsv6355534copy number variation1nstd223human GRCh38 chr2: 147,900,601-147,901,500 , GRCh37.p13 chr2: 148,658,170-148,659,069 ACVR2A
    nsv6351974copy number variation1nstd223human GRCh38 chr2: 147,911,219-147,980,890 , GRCh37.p13 chr2: 148,668,788-148,738,459 ORC4, ACVR2A
    nsv6351016copy number variation1nstd223human GRCh38 chr2: 147,912,486-147,912,913 , GRCh37.p13 chr2: 148,670,055-148,670,482 ACVR2A
    nsv6350919copy number variation1nstd223human GRCh38 chr2: 146,838,349-149,599,030 , GRCh37.p13 chr2: 147,595,917-150,455,544 , TXNP5, 33 more genes
    nsv6350013copy number variation1nstd223human GRCh38 chr2: 147,884,601-147,886,400 , GRCh37.p13 chr2: 148,642,170-148,643,969 ACVR2A
    nsv6347450copy number variation1nstd223human GRCh38 chr2: 147,874,343-147,874,900 , GRCh37.p13 chr2: 148,631,912-148,632,469 ACVR2A
    nsv6346340copy number variation1nstd223human GRCh38 chr2: 147,842,101-147,845,500 , GRCh37.p13 chr2: 148,599,670-148,603,069 ACVR2A
    nsv6342483copy number variation1nstd223human GRCh38 chr2: 147,904,401-147,905,700 , GRCh37.p13 chr2: 148,661,970-148,663,269 ACVR2A
    nsv6338622copy number variation1nstd223human GRCh38 chr2: 147,855,701-147,857,400 , GRCh37.p13 chr2: 148,613,270-148,614,969 ACVR2A
    nsv6337547copy number variation1nstd223human GRCh38 chr2: 147,843,701-147,847,000 , GRCh37.p13 chr2: 148,601,270-148,604,569 ACVR2A
    nsv6337238copy number variation1nstd223human GRCh38 chr2: 147,866,684-147,867,069 , GRCh37.p13 chr2: 148,624,253-148,624,638 ACVR2A
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
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