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Items: 1 to 20 of 53

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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 SH3BP4, DAZAP2P1, 2991 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 SH3BP4, LOC105373947, 357 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 SH3BP4, PDE6D, 227 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 SH3BP4, B3GNT7, 193 more genes
    nsv4768328copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,110,452-243,028,452 , GRCh38.p12 chr2: 232,245,742-242,086,301 SH3BP4, LOC107985836, 217 more genes
    nsv6315436copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,227,837-242,783,384 , GRCh38.p12 chr2: 232,363,127-241,841,232 SH3BP4, LOC105373929, 204 more genes
    nsv3871027copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,784,243-243,040,217 , GRCh38.p12 chr2: 232,919,533-242,098,066 SH3BP4, MROH2A, 194 more genes
    nsv3910501copy number variation1nstd102humanPathogenic NCBI36 chr2: 233,599,457-242,717,007 , GRCh37.p13 chr2: 233,891,213-243,068,334 , GRCh38.p12 chr2: 233,026,503-242,126,183 SH3BP4, UGT1A3, 194 more genes
    nsv3894767copy number variation1nstd102humanPathogenic GRCh38 chr2: 233,420,162-242,086,301 , NCBI36 chr2: 233,704,084-242,677,125 , GRCh37 chr2: 233,995,840-243,028,452 SH3BP4, LOC112268433, 184 more genes
    nsv3892808copy number variation1nstd102humanPathogenic GRCh37 chr2: 234,362,257-243,041,306 , NCBI36 chr2: 234,026,996-242,689,979 , GRCh38 chr2: 233,453,611-242,099,155 SH3BP4, RPL3P5, 185 more genes
    nsv3877071copy number variation1nstd102humanPathogenic GRCh37 chr2: 234,495,262-242,783,384 , GRCh38.p12 chr2: 233,586,616-241,841,232 SH3BP4, RNU6-1140P, 171 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 SH3BP4, SP110, 167 more genes
    nsv4674624copy number variation1nstd102humanPathogenic GRCh37 chr2: 234,791,927-242,783,384 , GRCh38.p12 chr2: 233,883,281-241,841,232 SH3BP4, LOC93463, 151 more genes
    nsv3899818copy number variation1nstd102humanPathogenic NCBI36 chr2: 234,745,919-242,677,125 , GRCh37 chr2: 235,081,180-243,028,452 , GRCh38 chr2: 234,172,536-242,086,301 SH3BP4, SCLY, 159 more genes
    nsv3907279copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,254,486-243,059,659 , GRCh38 chr2: 234,345,842-242,126,245 , NCBI36 chr2: 234,919,225-242,717,069 SH3BP4, LINC01937, 159 more genes
    nsv3892556copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,068,297-242,783,384 , NCBI36 chr2: 234,733,036-242,432,057 , GRCh38 chr2: 234,159,653-241,841,232 SH3BP4, OR6B2, 149 more genes
    nsv3908885copy number variation1nstd102humanPathogenic NCBI36 chr2: 235,241,542-242,717,069 , GRCh38 chr2: 234,668,159-242,126,245 , GRCh37 chr2: 235,576,803-243,059,659 SH3BP4, LOC105373946, 155 more genes
    nsv3893680copy number variation1nstd102humanPathogenic NCBI36 chr2: 235,409,163-242,656,032 , GRCh37 chr2: 235,744,424-243,007,359 , GRCh38 chr2: 234,835,780-242,065,208 SH3BP4, UBE2F, 150 more genes
    nsv3881079copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,539,337-242,783,384 , GRCh38.p12 chr2: 234,630,693-241,841,232 SH3BP4, LOC112268433, 143 more genes
    nsv3904002copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,937,073-243,008,259 , GRCh38 chr2: 235,028,429-242,066,108 , NCBI36 chr2: 235,601,812-242,656,932 SH3BP4, RBM44, 146 more genes
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