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Items: 1 to 20 of 117

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5304679copy number variation1nstd204human GRCh38.p13 chr2: 219,642,417-219,644,493 , GRCh37.p13 chr2: 220,507,139-220,509,215 SLC4A3
    nsv5213486copy number variation1nstd204human GRCh38.p13 chr2: 219,642,301-219,644,500 , GRCh37.p13 chr2: 220,507,023-220,509,222 SLC4A3
    nsv5209865copy number variation1nstd204human GRCh38.p13 chr2: 219,642,136-219,644,443 , GRCh37.p13 chr2: 220,506,858-220,509,165 SLC4A3
    nsv4916947copy number variation1nstd200human GRCh38 chr2: 219,642,381-219,644,554 , GRCh37.p13 chr2: 220,507,103-220,509,276 SLC4A3
    nsv4913956copy number variation1nstd200human GRCh38 chr2: 219,642,309-219,644,559 , GRCh37.p13 chr2: 220,507,031-220,509,281 SLC4A3
    nsv4805974copy number variation1nstd200human GRCh37 chr2: 220,507,135-220,509,225 , GRCh38.p12 chr2: 219,642,413-219,644,503 SLC4A3
    nsv4804633copy number variation1nstd200human GRCh37 chr2: 220,507,030-220,509,280 , GRCh38.p12 chr2: 219,642,308-219,644,558 SLC4A3
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
    nsv4585458copy number variation2nstd183human GRCh37 chr2: 220,492,013-220,492,660 , GRCh38.p12 chr2: 219,627,291-219,627,938 SLC4A3
    nsv4583018copy number variation1nstd183human GRCh37 chr2: 220,492,561-220,492,612 , GRCh38.p12 chr2: 219,627,839-219,627,890 SLC4A3
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3908112copy number variation1nstd102humanPathogenic GRCh38 chr2: 190,310,736-241,892,770 , NCBI36 chr2: 190,883,707-242,483,594 , GRCh37 chr2: 191,175,462-242,834,921 LOC101928084, ECEL1P1, 871 more genes
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