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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5943254copy number variation1nstd209human GRCh38 chr19: 46,735,707-46,736,015 , GRCh37.p13 chr19: 47,238,964-47,239,272 STRN4
    nsv5647785insertion1nstd207human GRCh38 chr19: 46,735,455-46,735,455 , GRCh37.p13 chr19: 47,238,712-47,238,712 STRN4
    nsv5526040copy number variation1nstd206human GRCh38 chr19: 46,718,964-46,719,041 , GRCh37.p13 chr19: 47,222,221-47,222,298 STRN4, LOC107987269
    nsv5519470copy number variation1nstd206human GRCh38 chr19: 46,735,772-46,736,081 , GRCh37.p13 chr19: 47,239,029-47,239,338 STRN4
    nsv5518440copy number variation1nstd206human GRCh38 chr19: 46,735,023-46,735,746 , GRCh37.p13 chr19: 47,238,280-47,239,003 STRN4
    nsv5020781copy number variation1nstd200human GRCh38 chr19: 46,718,964-46,719,041 , GRCh37.p13 chr19: 47,222,221-47,222,298 STRN4, LOC107987269
    nsv4682791copy number variation1nstd102humanUncertain significance GRCh37 chr19: 47,109,074-47,260,205 , GRCh38.p12 chr19: 46,605,817-46,756,948 DACT3, FKRP, 9 more genes
    nsv4676357copy number variation1nstd102humanPathogenic GRCh37 chr19: 44,738,088-53,621,561 , GRCh38.p12 chr19: 44,233,935-53,118,308 MIR4324, KLK9, 485 more genes
    nsv4676350copy number variation1nstd102humanUncertain significance GRCh37 chr19: 45,531,056-48,174,177 , GRCh38.p12 chr19: 45,027,798-47,670,920 NKPD1, IGFL1, 112 more genes
    nsv4621044copy number variation1nstd183human GRCh37 chr19: 47,249,429-47,249,611 , GRCh38.p12 chr19: 46,746,172-46,746,354 FKRP, STRN4
    nsv4577246mobile element insertion1nstd166human GRCh37.p13 chr19: 47,238,237-47,238,237 , GRCh38.p12 chr19: 46,734,980-46,734,980 STRN4
    nsv4457372copy number variation1nstd102humanPathogenic GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575 ZNF461, LOC101927572, 735 more genes
    nsv4350827copy number variation1nstd102humanPathogenic GRCh37 chr19: 47,036,361-48,525,536 , GRCh38.p12 chr19: 46,533,104-48,022,279 LINC01595, SNAR-A13, 59 more genes
    nsv4321864inversion1nstd166human GRCh37.p13 chr19: 46,657,897-51,634,775 , GRCh38.p12 chr19: 46,154,640-51,131,518 , C5AR1, 288 more genes
    nsv4268189copy number variation1nstd166human GRCh37.p13 chr19: 47,238,291-47,238,993 , GRCh38.p12 chr19: 46,735,034-46,735,736 STRN4
    nsv3924836copy number variation1nstd102humanPathogenic NCBI36 chr19: 50,166,517-53,452,471 , GRCh37 chr19: 45,474,677-48,760,659 , GRCh38 chr19: 44,971,420-48,257,402 IGFL1P1, LOC105372426, 145 more genes
    nsv3921787copy number variation1nstd102humanLikely pathogenic NCBI36 chr19: 50,582,487-52,026,097 , GRCh37 chr19: 45,890,647-47,334,257 , GRCh38 chr19: 45,387,389-46,831,000 CALM3, DMPK, 71 more genes
    nsv3920398copy number variation2nstd102humanUncertain significance NCBI36 chr19: 51,629,587-52,026,097 , GRCh37 chr19: 46,937,747-47,334,257 , GRCh38 chr19: 46,434,490-46,831,000 LOC107987269, GNG8, 16 more genes
    nsv3918983copy number variation1nstd102humanPathogenic GRCh38 chr19: 46,658,791-49,050,450 , GRCh37 chr19: 47,162,048-49,553,707 , NCBI36 chr19: 51,853,888-54,245,519 LOC105372432, FTL, 121 more genes
    nsv3910109copy number variation1nstd102humanPathogenic GRCh38 chr19: 46,458,122-47,683,579 , GRCh37 chr19: 46,961,379-48,186,836 , NCBI36 chr19: 51,653,219-52,878,648 FKRP, GNG8, 38 more genes
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