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Items: 1 to 20 of 290

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096308copy number variation1nstd102humanUncertain significance GRCh37 chr22: 35,776,672-42,486,826 , GRCh38.p12 chr22: 35,380,679-42,090,822 CDC42EP1, SREBF2, 231 more genes
    nsv7095946copy number variation1nstd102humanPathogenic GRCh37 chr22: 41,282,297-41,282,539 , GRCh38.p12 chr22: 40,886,293-40,886,535 XPNPEP3
    nsv7095945copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,277,754-41,278,201 , GRCh38.p12 chr22: 40,881,750-40,882,197 XPNPEP3
    nsv7095944copy number variation1nstd102humanPathogenic GRCh37 chr22: 41,074,407-41,489,122 , GRCh38.p12 chr22: 40,678,403-41,093,118 EP300, DNAJB7, 13 more genes
    nsv7077764inversion1nstd229human GRCh38 chr22: 37,971,370-41,589,449 , GRCh37.p13 chr22: 38,367,377-41,985,453 UQCRFS1P1, LOC105373027, 119 more genes
    nsv7070838inversion1nstd229human GRCh38 chr22: 40,481,826-41,015,795 , GRCh37.p13 chr22: 40,877,830-41,411,799 RFKP4, COX6B1P3, 14 more genes
    nsv7061959inversion1nstd229human GRCh38 chr22: 36,818,005-44,993,640 , GRCh37.p13 chr22: 37,214,049-45,389,520 SMIM45, A4GALT, 271 more genes
    nsv7058666inversion1nstd229human GRCh38 chr22: 39,066,437-42,707,681 , GRCh37.p13 chr22: 39,462,442-43,103,687 LOC101927344, ATF4, 128 more genes
    nsv7037416copy number variation1nstd229human GRCh38 chr22: 40,898,118-40,905,913 , GRCh37.p13 chr22: 41,294,122-41,301,917 XPNPEP3
    nsv7027741copy number variation1nstd229human GRCh38 chr22: 39,432,386-49,047,389 , GRCh37.p13 chr22: 39,828,391-49,443,201 LOC105373064, ACO2, 233 more genes
    nsv7026791copy number variation1nstd229human GRCh38 chr22: 40,809,341-40,911,271 , GRCh37.p13 chr22: 41,205,345-41,307,275 SLC25A17, XPNPEP3, 3 more genes
    nsv7022943copy number variation1nstd229human GRCh38 chr22: 40,931,636-40,938,881 , GRCh37.p13 chr22: 41,327,640-41,334,885 XPNPEP3
    nsv7022500copy number variation1nstd229human GRCh38 chr22: 40,869,680-40,880,135 , GRCh37.p13 chr22: 41,265,684-41,276,139 XPNPEP3
    nsv7021152copy number variation1nstd229human GRCh38 chr22: 40,909,474-40,923,524 , GRCh37.p13 chr22: 41,305,478-41,319,528 XPNPEP3, RNU6-379P
    nsv7020554copy number variation1nstd229human GRCh38 chr22: 40,863,318-40,873,035 , GRCh37.p13 chr22: 41,259,322-41,269,039 XPNPEP3
    nsv6638050copy number variation1nstd102humanPathogenic GRCh37 chr22: 40,131,240-41,556,564 , GRCh38.p12 chr22: 39,735,235-41,160,560 GRAP2, UQCRFS1P1, 32 more genes
    nsv6637214copy number variation1nstd102humanUncertain significance GRCh37 chr22: 39,768,795-41,946,225 , GRCh38.p12 chr22: 39,372,790-41,550,221 MRTFA-AS1, LOC105373043, 62 more genes
    nsv6599872inversion1nstd223human GRCh38 chr22: 40,910,995-40,911,689 , GRCh37.p13 chr22: 41,306,999-41,307,693 XPNPEP3
    nsv6599710inversion1nstd223human GRCh38 chr22: 40,927,700-40,928,215 , GRCh37.p13 chr22: 41,323,704-41,324,219 XPNPEP3
    nsv6598642inversion1nstd223human GRCh38 chr22: 40,927,745-40,928,285 , GRCh37.p13 chr22: 41,323,749-41,324,289 XPNPEP3
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