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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096398copy number variation1nstd102humanPathogenic GRCh37 chr2: 217,279,428-217,281,050 , GRCh38.p12 chr2: 216,414,705-216,416,327 SMARCAL1
    nsv4453505copy number variation1nstd102humanPathogenic GRCh38 chr2: 216,414,695-216,416,317 , GRCh37 chr2: 217,279,418-217,281,040 SMARCAL1
    nsv7096399copy number variation1nstd102humanPathogenic GRCh37 chr2: 217,341,812-217,341,952 , GRCh38.p12 chr2: 216,477,089-216,477,229 SMARCAL1
    nsv7096135copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 217,311,721-217,311,901 , GRCh38.p12 chr2: 216,446,998-216,447,178 SMARCAL1
    nsv5673533copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 217,311,731-217,311,891 , GRCh38.p12 chr2: 216,447,008-216,447,168 SMARCAL1
    nsv5673694copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 217,285,012-217,315,797 , GRCh38.p12 chr2: 216,420,289-216,451,074 SMARCAL1
    nsv4674168copy number variation1nstd102humanUncertain significance GRCh37 chr2: 217,279,767-217,336,105 , GRCh38.p12 chr2: 216,415,044-216,471,382 SMARCAL1
    nsv4449874copy number variation1nstd102humanUncertain significance GRCh37 chr2: 217,280,960-217,281,050 , GRCh38 chr2: 216,416,237-216,416,327 SMARCAL1
    nsv7096239copy number variation1nstd102humanUncertain significance GRCh37 chr2: 217,279,428-217,347,700 , GRCh38.p12 chr2: 216,414,705-216,482,977 SMARCAL1, RPL37A-DT
    nsv6315004inversion1nstd102humanLikely pathogenic GRCh38 chr2: 216,370,024-216,479,573 , GRCh37.p13 chr2: 217,234,747-217,344,296 SMARCAL1, MARCHF4, 2 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 SMARCAL1, DAZAP2P1, 2991 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 SMARCAL1, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 SMARCAL1, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 SMARCAL1, RNU6-674P, 3735 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 SMARCAL1, MTND2P22, 3724 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 SMARCAL1, LOC105376755, 1013 more genes
    nsv3890898copy number variation1nstd102humanPathogenic GRCh38 chr2: 188,818,195-242,065,208 , NCBI36 chr2: 189,391,166-242,656,032 , GRCh37 chr2: 189,682,921-243,007,359 SMARCAL1, LOC105373909, 901 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 SMARCAL1, RNU6-1206P, 883 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 SMARCAL1, LOC101928084, 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 SMARCAL1, LINC00607, 644 more genes
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