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Items: 1 to 20 of 101

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7047506inversion1nstd229human GRCh38 chr2: 222,618,340-223,958,759 , GRCh37.p13 chr2: 223,483,059-224,823,476 LOC105373903, LOC105373906, 22 more genes
    nsv7047209inversion1nstd229human GRCh38 chr2: 222,803,564-227,992,948 , GRCh37.p13 chr2: 223,668,283-228,857,664 MFF, LOC100289117, 55 more genes
    nsv7043640inversion1nstd229human GRCh38 chr2: 222,841,128-228,011,478 , GRCh37.p13 chr2: 223,705,846-228,876,194 MFF-DT, LOC105373905, 55 more genes
    nsv6686043copy number variation1nstd229human GRCh38 chr2: 223,587,180-223,595,182 , GRCh37.p13 chr2: 224,451,898-224,459,900 SCG2
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315345copy number variation1nstd102humanPathogenic GRCh37 chr2: 222,902,251-226,084,516 , GRCh38.p12 chr2: 222,037,532-225,219,799 LOC105373911, LOC105373908, 43 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 LOC105373947, RN7SL764P, 357 more genes
    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
    nsv5038383inversion1nstd200human GRCh38 chr2: 222,072,838-224,063,267 , GRCh37.p13 chr2: 222,937,557-224,927,984 GAPDHP49, ACSL3-AS1, 31 more genes
    nsv4885260inversion1nstd200human GRCh37 chr2: 222,937,557-224,927,984 , GRCh38.p12 chr2: 222,072,838-224,063,267 CCDC140, WDFY1, 31 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
    nsv4728510copy number variation1nstd102humanPathogenic GRCh37 chr2: 222,621,434-224,754,689 , GRCh38.p12 chr2: 221,756,714-223,889,972 LOC105373905, LOC105373902, 32 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
    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
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