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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
    nsv5215828copy number variation1nstd204human GRCh38.p13 chr2: 219,192,501-219,347,300 , GRCh37.p13 chr2: 220,057,223-220,212,022 DNAJB2, TUBA4B, 10 more genes
    nsv4916937copy number variation1nstd200human GRCh38 chr2: 219,284,140-219,286,975 , GRCh37.p13 chr2: 220,148,862-220,151,697 DNAJB2
    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
    nsv4583017copy number variation1nstd183human GRCh37 chr2: 220,137,991-220,174,637 , GRCh38.p12 chr2: 219,273,269-219,309,915 PTPRN, MIR153-1, 1 more genes
    nsv4450757copy number variation1nstd102humanUncertain significance GRCh37 chr2: 219,879,593-220,346,596 , GRCh38.p12 chr2: 219,014,871-219,481,874 ATG9A, DES, 27 more genes
    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
    nsv4087152copy number variation1nstd166human GRCh37.p13 chr2: 220,056,100-220,181,500 , GRCh38.p12 chr2: 219,191,378-219,316,778 ATG9A, PTPRN, 9 more genes
    nsv3963250copy number variation1nstd168human GRCh38 chr2: 219,247,496-219,299,610 , GRCh37.p13 chr2: 220,112,218-220,164,332 DNAJB2, PTPRN, 4 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
    nsv3906433copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,946,342-226,295,024 , GRCh38 chr2: 219,081,620-225,430,308 , NCBI36 chr2: 219,654,586-226,003,268 HIGD1AP4, SCG2, 102 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
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