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Items: 1 to 20 of 156

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5906891copy number variation1nstd209human GRCh38 chr2: 189,450,096-189,453,962 , GRCh37.p13 chr2: 190,314,822-190,318,688 WDR75
    nsv5831809copy number variation1nstd209human GRCh38 chr2: 189,449,795-189,454,029 , GRCh37.p13 chr2: 190,314,521-190,318,755 WDR75
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5447771copy number variation1nstd206human GRCh38 chr2: 189,452,342-189,452,480 , GRCh37.p13 chr2: 190,317,068-190,317,206 WDR75
    nsv4929002copy number variation1nstd200human GRCh38 chr2: 189,435,680-189,490,424 , GRCh37.p13 chr2: 190,300,406-190,355,150 , WDR75, 1 more genes
    nsv4804494copy number variation1nstd200human GRCh37 chr2: 190,300,396-190,355,151 , GRCh38.p12 chr2: 189,435,670-189,490,425 , KDM3AP1, 1 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
    nsv4728689copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 188,294,864-197,731,939 , GRCh38.p12 chr2: 187,430,137-196,867,215 COL3A1, COL5A2, 98 more genes
    nsv4681581copy number variation2nstd102humanPathogenic GRCh37 chr2: 189,839,206-190,445,374 , GRCh38.p12 chr2: 188,974,480-189,580,648 KRT18P19, LOC105373791, 9 more genes
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4549718insertion1nstd166human GRCh37.p13 chr2: 190,313,027-190,313,027 , GRCh38.p12 chr2: 189,448,301-189,448,301 WDR75
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 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
    nsv4390106copy number variation1nstd171human GRCh37 chr2: 190,325,360-190,325,391 , GRCh38.p12 chr2: 189,460,634-189,460,665 WDR75
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv4087942copy number variation1nstd166human GRCh37.p13 chr2: 190,300,393-190,355,120 , GRCh38.p12 chr2: 189,435,667-189,490,394 , KDM3AP1, 1 more genes
    nsv4086377copy number variation1nstd166human GRCh37.p13 chr2: 189,493,457-190,809,233 , GRCh38.p12 chr2: 188,628,730-189,944,507 , MIR3606, 27 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
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