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Items: 1 to 20 of 259

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980421copy number variation1nstd102humanLikely benign GRCh37 chr2: 166,847,793-166,847,921 , GRCh38.p12 chr2: 165,991,283-165,991,411 SCN1A, LOC102724058
    nsv5969424inversion1nstd209human GRCh38 chr2: 165,991,409-165,992,529 , GRCh37.p13 chr2: 166,847,919-166,849,039 SCN1A, LOC102724058
    nsv5962917insertion1nstd209human GRCh38 chr2: 166,032,202-166,032,202 , GRCh37.p13 chr2: 166,888,712-166,888,712 SCN1A, LOC102724058
    nsv5949414insertion1nstd209human GRCh38 chr2: 166,118,298-166,118,298 , GRCh37.p13 chr2: 166,974,808-166,974,808 SCN1A-AS1, SCN1A
    nsv5900237copy number variation1nstd209human GRCh38 chr2: 166,078,363-166,078,414 , GRCh37.p13 chr2: 166,934,873-166,934,924 SCN1A
    nsv5897615copy number variation1nstd209human GRCh38 chr2: 166,113,482-166,114,699 , GRCh37.p13 chr2: 166,969,992-166,971,209 SCN1A, SCN1A-AS1
    nsv5896960copy number variation1nstd209human GRCh38 chr2: 166,049,124-166,049,198 , GRCh37.p13 chr2: 166,905,634-166,905,708 SCN1A
    nsv5896795copy number variation1nstd209human GRCh38 chr2: 166,030,406-166,030,474 , GRCh37.p13 chr2: 166,886,916-166,886,984 SCN1A, LOC102724058
    nsv5887759copy number variation1nstd209human GRCh38 chr2: 166,083,450-166,083,524 , GRCh37.p13 chr2: 166,939,960-166,940,034 SCN1A-AS1, SCN1A
    nsv5831731copy number variation1nstd209human GRCh38 chr2: 166,113,466-166,114,565 , GRCh37.p13 chr2: 166,969,976-166,971,075 SCN1A, SCN1A-AS1
    nsv5679887mobile element insertion1nstd211human GRCh38 chr2: 166,009,137-166,009,137 , GRCh37.p13 chr2: 166,865,647-166,865,647 SCN1A, LOC102724058
    nsv5673293copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,605,291-167,168,266 , GRCh38.p12 chr2: 165,748,781-166,311,756 GALNT3, SCN1A, 7 more genes
    nsv5619329insertion1nstd207human GRCh38 chr2: 166,032,202-166,032,202 , GRCh37.p13 chr2: 166,888,712-166,888,712 SCN1A, LOC102724058
    nsv5576386copy number variation1nstd207human GRCh38 chr2: 166,078,363-166,078,414 , GRCh37.p13 chr2: 166,934,873-166,934,924 SCN1A
    nsv5574069copy number variation1nstd207human GRCh38 chr2: 166,049,124-166,049,198 , GRCh37.p13 chr2: 166,905,634-166,905,708 SCN1A
    nsv5566834copy number variation1nstd207human GRCh38 chr2: 166,030,411-166,030,478 , GRCh37.p13 chr2: 166,886,921-166,886,988 SCN1A, LOC102724058
    nsv5564252copy number variation5nstd102humanPathogenic GRCh37 chr2: 165,946,660-167,168,266 , GRCh38.p12 chr2: 165,090,150-166,311,756 TTC21B-AS1, RN7SKP152, 11 more genes
    nsv5561767sequence alteration1nstd206human GRCh38 chr2: 165,991,282-165,992,532 , GRCh37.p13 chr2: 166,847,792-166,849,042 SCN1A, LOC102724058
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
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