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Items: 1 to 20 of 111

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5343131translocation1nstd200human GRCh37 chr2: 233,630,373-233,630,373 , GRCh37 chr6: 32,501,923-32,501,923 , GRCh38.p12 chr2: 232,765,663-232,765,663 , GRCh38.p12 chr6: 32,534,146-32,534,146 GIGYF2, KCNJ13
    nsv4768328copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,110,452-243,028,452 , GRCh38.p12 chr2: 232,245,742-242,086,301 LOC107985836, LOC105373980, 217 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
    nsv4673913copy number variation1nstd102humanPathogenic GRCh37 chr2: 230,814,690-242,783,384 , GRCh38.p12 chr2: 229,949,974-241,841,232 MIR2467, D2HGDH, 270 more genes
    nsv4466043mobile element insertion1nstd166human GRCh37.p13 chr2: 233,629,869-233,629,869 , GRCh38.p12 chr2: 232,765,159-232,765,159 GIGYF2, KCNJ13
    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
    nsv3924332copy number variation1nstd102humanPathogenic NCBI36 chr2: 230,011,029-233,894,271 , GRCh37.p13 chr2: 230,302,785-234,229,532 , GRCh38.p12 chr2: 229,438,069-233,320,886 EIF4E2, LOC107985996, 100 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
    nsv3913233copy number variation1nstd102humanUncertain significance NCBI36 chr2: 232,658,738-233,625,297 , GRCh37.p13 chr2: 232,950,494-233,917,053 , GRCh38.p12 chr2: 232,085,784-233,052,343 MIR5001, CHRNG, 26 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
    nsv3907553copy number variation1nstd102humanPathogenic GRCh37 chr2: 228,878,865-235,885,068 , NCBI36 chr2: 228,587,109-235,549,807 , GRCh38 chr2: 228,014,149-234,976,424 HSPE1P9, UGT1A, 151 more genes
    nsv3906029copy number variation1nstd102humanPathogenic NCBI36 chr2: 227,916,238-235,912,551 , GRCh38 chr2: 227,343,278-235,339,168 , GRCh37 chr2: 228,207,994-236,247,812 SP110, LOC107985994, 167 more genes
    nsv3905997copy number variation1nstd102humanPathogenic NCBI36 chr2: 229,296,539-241,992,955 , GRCh37 chr2: 229,588,295-242,344,282 , GRCh38 chr2: 228,723,579-241,404,867 UGT1A8, UGT1A12P, 265 more genes
    nsv3898929copy number variation2nstd102humanPathogenic GRCh38 chr2: 231,770,279-242,126,245 , GRCh37 chr2: 232,634,989-243,059,659 , NCBI36 chr2: 232,343,233-242,717,069 PDE6D, MIR4440, 227 more genes
    nsv3897593copy number variation1nstd102humanPathogenic GRCh38 chr2: 227,803,148-242,086,301 , NCBI36 chr2: 228,376,108-242,677,125 , GRCh37 chr2: 228,667,864-243,028,452 MIR4441, LOC105373960, 302 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
    nsv3893827copy number variation1nstd102humanPathogenic NCBI36 chr2: 227,551,089-237,459,981 , GRCh38 chr2: 226,978,129-236,886,599 , GRCh37 chr2: 227,842,845-237,795,242 B3GNT7, SPATA3, 193 more genes
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