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Items: 1 to 20 of 322

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4359831copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 175,207,476-189,573,935 , GRCh37.p13 chr2: 175,499,230-189,865,690 , GRCh38.p12 chr2: 174,634,502-189,000,964 COL3A1, CHN1, 186 more genes
    nsv4359574copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 189,391,166-242,656,032 , GRCh37.p13 chr2: 189,682,921-243,007,359 , GRCh38.p12 chr2: 188,818,195-242,065,208 COL3A1, AAMP, 933 more genes
    nsv4359570copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 176,877,419-202,612,758 , GRCh37.p13 chr2: 177,169,173-202,904,513 , GRCh38.p12 chr2: 176,304,445-202,039,790 COL3A1, COL5A2, 344 more genes
    nsv4359206copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 182,331,673-192,588,363 , GRCh37.p13 chr2: 182,623,428-192,880,118 , GRCh38.p12 chr2: 181,758,701-192,015,392 COL3A1, COL5A2, 121 more genes
    nsv4357089copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 186,600,444-201,632,340 , GRCh37.p13 chr2: 186,892,199-201,924,095 , GRCh38.p12 chr2: 186,027,472-201,059,372 COL3A1, COL5A2, 187 more genes
    nsv4356729copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 181,086,765-224,875,809 , GRCh37.p13 chr2: 181,378,520-225,167,565 , GRCh38.p12 chr2: 180,513,793-224,302,848 COL3A1, BCS1L, 667 more genes
    nsv4354958copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 189,520,474-190,262,584 , GRCh37.p13 chr2: 189,812,229-190,554,339 , GRCh38.p12 chr2: 188,947,503-189,689,613 COL3A1, ANKAR, 14 more genes
    nsv4354052copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 175,471,822-204,514,516 , GRCh37.p13 chr2: 175,763,576-204,806,271 , GRCh38.p12 chr2: 174,898,848-203,941,548 COL3A1, CD28, 432 more genes
    nsv4352836copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 178,447,043-199,098,461 , GRCh37.p13 chr2: 178,738,797-199,390,216 , GRCh38.p12 chr2: 177,874,070-198,525,492 COL3A1, HSPE1, 235 more genes
    nsv4352726copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr2: 171,993,989-189,752,539 , GRCh37.p13 chr2: 172,285,743-190,044,294 , GRCh38.p12 chr2: 171,429,233-189,179,568 COL3A1, CHRNA1, 247 more genes
    nsv4347410copy number variation1nstd102humanPathogenic GRCh37 (hg19) chr2: 178,692,457-195,990,053 , GRCh38.p12 chr2: 177,827,730-195,125,329 , NCBI36 (hg18) chr2: 178,400,703-195,698,298 COL3A1, COL5A2, 186 more genes
    nsv4347126copy number variation1nstd102humanPathogenic GRCh37 (hg19) chr2: 176,951,491-194,066,696 , GRCh38.p12 chr2: 176,086,763-193,201,970 , NCBI36 (hg18) chr2: 176,659,737-193,774,941 COL3A1, FUCA1P1, 226 more genes
    nsv4346993copy number variation1nstd102humanLikely benign GRCh38 (hg38) chr2: 188,997,687-188,997,689 , GRCh37.p13 chr2: 189,862,413-189,862,415 , NCBI36 (hg18) chr2: 189,570,658-189,570,660 COL3A1
    nsv4346992copy number variation1nstd102humanLikely benign GRCh38 (hg38) chr2: 188,992,947-188,992,948 , GRCh37.p13 chr2: 189,857,673-189,857,674 , NCBI36 (hg18) chr2: 189,565,918-189,565,919 COL3A1
    nsv4346991copy number variation1nstd102humanUncertain significance GRCh38 (hg38) chr2: 188,984,766-188,984,768 , GRCh37.p13 chr2: 189,849,492-189,849,494 , NCBI36 (hg18) chr2: 189,557,737-189,557,739 COL3A1, LOC105373791
    nsv4346832copy number variation1nstd102humanPathogenic GRCh37 (hg19) chr2: 189,854,134-189,861,040 , GRCh38.p12 chr2: 188,989,408-188,996,314 , NCBI36 (hg18) chr2: 189,562,379-189,569,285 COL3A1, MIR3606
    nsv4344481mobile element insertion1nstd166human GRCh37.p13 chr2: 1,122,805-202,149,463 , GRCh38.p12 chr2: 1,127,119-201,284,740 COL3A1, ACVR1, 3084 more genes
    nsv4341870mobile element insertion1nstd166human GRCh37.p13 chr2: 137,823,164-202,146,279 , GRCh38.p12 chr2: 137,065,594-201,281,556 COL3A1, ACVR2A, 801 more genes
    nsv4341037mobile element insertion1nstd166human GRCh37.p13 chr2: 101,881,547-198,788,988 , GRCh38.p12 chr2: 101,265,085-197,924,264 COL3A1, ACVR1, 1350 more genes
    nsv4339180mobile element insertion1nstd166human GRCh37.p13 chr2: 27,523,339-202,149,402 , GRCh38.p12 chr2: 27,300,471-201,284,679 COL3A1, ACVR1, 2700 more genes
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