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Items: 1 to 20 of 155

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096653copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,121,051-47,710,088 , GRCh38.p12 chr2: 37,893,908-47,482,949 PLEKHH2, RNU6-566P, 151 more genes
    nsv7050504inversion1nstd229human GRCh38 chr2: 43,480,289-43,766,074 , GRCh37.p13 chr2: 43,707,428-43,993,213 C1GALT1C1L, RN7SL531P, 3 more genes
    nsv7039759inversion1nstd229human GRCh38 chr2: 39,986,388-47,339,194 , GRCh37.p13 chr2: 40,213,528-47,566,333 RPL36AP14, CRIPT, 105 more genes
    nsv6673102copy number variation1nstd229human GRCh38 chr2: 43,486,607-43,783,783 , GRCh37.p13 chr2: 43,713,746-44,010,922 C1GALT1C1L, RN7SL531P, 6 more genes
    nsv6671830copy number variation1nstd229human GRCh38 chr2: 43,646,301-43,801,500 , GRCh37.p13 chr2: 43,873,440-44,028,639 DYNC2LI1, LOC105374571, 4 more genes
    nsv6670108copy number variation1nstd229human GRCh38 chr2: 43,675,198-43,684,974 , GRCh37.p13 chr2: 43,902,337-43,912,113 PLEKHH2, C1GALT1C1L, 1 more genes
    nsv6668387copy number variation1nstd229human GRCh38 chr2: 43,658,901-43,798,200 , GRCh37.p13 chr2: 43,886,040-44,025,339 RN7SKP66, C1GALT1C1L, 4 more genes
    nsv6665182copy number variation1nstd229human GRCh38 chr2: 43,630,394-43,803,065 , GRCh37.p13 chr2: 43,857,533-44,030,204 C1GALT1C1L, LOC100421122, 4 more genes
    nsv6664648copy number variation1nstd229human GRCh38 chr2: 43,506,633-43,999,710 , GRCh37.p13 chr2: 43,733,772-44,226,849 DYNC2LI1, ABCG8, 11 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6628123copy number variation1nstd224human GRCh37 chr2: 43,834,118-43,973,099 , GRCh38.p12 chr2: 43,606,979-43,745,960 PLEKHH2, LOC100421122, 1 more genes
    nsv6350468copy number variation1nstd223human GRCh38 chr2: 43,486,607-43,783,783 , GRCh37.p13 chr2: 43,713,746-44,010,922 THADA, LOC100421122, 6 more genes
    nsv6348530copy number variation1nstd223human GRCh38 chr2: 43,600,138-43,756,730 , GRCh37.p13 chr2: 43,827,277-43,983,869 PLEKHH2, LOC100421122, 1 more genes
    nsv6339935copy number variation1nstd223human GRCh38 chr2: 43,674,418-43,676,028 , GRCh37.p13 chr2: 43,901,557-43,903,167 PLEKHH2, C1GALT1C1L
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6134459copy number variation1nstd213human GRCh37 chr2: 40,080,000-50,820,001 , GRCh38.p12 chr2: 39,852,860-50,592,863 , BCYRN1, 149 more genes
    nsv6134458copy number variation2nstd213human GRCh37 chr2: 38,440,000-47,670,001 , GRCh38.p12 chr2: 38,212,858-47,442,862 ASS1P2, BCYRN1, 144 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv5886852copy number variation1nstd209human GRCh38 chr2: 43,549,190-43,675,530 , GRCh37.p13 chr2: 43,776,329-43,902,669 THADA, PLEKHH2, 1 more genes
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