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Items: 1 to 20 of 103

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5205806copy number variation1nstd204human GRCh38.p13 chr2: 218,240,201-218,420,200 , GRCh37.p13 chr2: 219,104,924-219,284,923 CATIP, CATIP-AS1, 16 more genes
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    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
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 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
    nsv4519352copy number variation1nstd166human GRCh37.p13 chr2: 219,134,552-219,134,630 , GRCh38.p12 chr2: 218,269,829-218,269,907 PNKD, AAMP
    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
    nsv4347291copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 218,271,898-219,825,640 , GRCh38.p12 chr2: 217,407,175-218,960,918 AAMP, BCS1L, 51 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
    nsv3902143copy number variation1nstd102humanPathogenic GRCh38 chr2: 180,513,793-224,302,848 , NCBI36 chr2: 181,086,765-224,875,809 , GRCh37 chr2: 181,378,520-225,167,565 LINC00607, ABCA12, 644 more genes
    nsv3896499copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,300,875-242,783,384 , NCBI36 chr2: 190,009,120-242,432,057 , GRCh38 chr2: 189,436,149-241,841,232 RNU6-1206P, MIR3131, 883 more genes
    nsv3894025copy number variation1nstd102humanPathogenic NCBI36 chr2: 218,674,727-242,717,069 , GRCh37 chr2: 218,966,482-243,059,659 , GRCh38 chr2: 218,101,759-242,126,245 DNAJB6P3, LOC105373923, 483 more genes
    nsv3892823copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,444,400-243,059,659 , GRCh38 chr2: 210,579,676-242,126,245 , NCBI36 chr2: 211,152,645-242,717,069 RPL19P5, MIR548F2, 567 more genes
    nsv3892046copy number variation1nstd102humanPathogenic GRCh37 chr2: 195,763,507-237,382,556 , NCBI36 chr2: 195,471,752-237,047,295 , GRCh38 chr2: 194,898,783-236,473,913 NPM1P46, NOP58, 706 more genes
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