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Items: 1 to 20 of 152

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5426045copy number variation1nstd206human GRCh38 chr1: 46,383,835-46,392,400 , GRCh37.p13 chr1: 46,849,507-46,858,072 FAAH
    nsv5418362copy number variation1nstd206human GRCh38 chr1: 46,393,998-46,394,062 , GRCh37.p13 chr1: 46,859,670-46,859,734 FAAH
    nsv4906345copy number variation1nstd200human GRCh38 chr1: 46,384,506-46,392,439 , GRCh37.p13 chr1: 46,850,178-46,858,111 FAAH
    nsv4903454copy number variation1nstd200human GRCh38 chr1: 46,401,088-46,401,364 , GRCh37.p13 chr1: 46,866,760-46,867,036 FAAH
    nsv4773397copy number variation1nstd200human GRCh37 chr1: 46,863,895-46,864,404 , GRCh38.p12 chr1: 46,398,223-46,398,732 FAAH
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4674638copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,768,408-47,174,149 , GRCh38.p12 chr1: 46,302,736-46,708,477 UQCRH, MKNK1-AS1, 17 more genes
    nsv4674480copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,501,759-46,898,503 , GRCh38.p12 chr1: 46,036,087-46,432,831 LRRC41, TSPAN1, 12 more genes
    nsv4646813copy number variation2nstd186human GRCh37 chr1: 46,859,670-46,859,734 , GRCh38.p12 chr1: 46,393,998-46,394,062 FAAH
    nsv4534238insertion1nstd166human GRCh37.p13 chr1: 46,859,638-46,859,638 , GRCh38.p12 chr1: 46,393,966-46,393,966 FAAH
    nsv4518124copy number variation1nstd166human GRCh37.p13 chr1: 46,859,670-46,859,734 , GRCh38.p12 chr1: 46,393,998-46,394,062 FAAH
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4040479copy number variation1nstd166human GRCh37.p13 chr1: 46,850,208-46,858,090 , GRCh38.p12 chr1: 46,384,536-46,392,418 FAAH
    nsv4035180copy number variation1nstd166human GRCh37.p13 chr1: 46,863,197-46,863,629 , GRCh38.p12 chr1: 46,397,525-46,397,957 FAAH
    nsv3891290copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,832,668-46,949,249 , GRCh38 chr1: 46,366,996-46,483,577 , NCBI36 chr1: 46,605,255-46,721,836 FAAH, FAAHP1, 1 more genes
    nsv3889597copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,372,688-47,188,150 , GRCh38.p12 chr1: 45,907,016-46,722,478 NENFP1, EFCAB14, 27 more genes
    nsv3888489copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 45,303,358-52,157,856 , GRCh38.p12 chr1: 44,837,686-51,692,184 CDKN2C, CYP4A11, 141 more genes
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