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Items: 18

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    Number of Variants: 18

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3916549copy number variation1nstd102humanBenign GRCh38 chr3: 195,733,529-195,736,631 , GRCh37 chr3: 195,460,400-195,463,502 , NCBI36 chr3: 196,946,071-196,949,173 MUC20
    nsv3918386copy number variation1nstd102humanBenign NCBI36 chr7: 142,863,066-142,863,687 , GRCh38 chr7: 143,455,851-143,456,472 , GRCh37 chr7: 143,152,944-143,153,565 EPHA1-AS1
    nsv3910454copy number variation1nstd102humanBenign NCBI36 chr15: 98,309,561-98,409,464 , GRCh37 chr15: 100,492,038-100,591,941 , GRCh38 chr15: 99,951,833-100,051,736 ADAMTS17, LOC105371022
    nsv3914700copy number variation1nstd102humanBenign GRCh38 chr12: 111,724,654-111,867,329 , NCBI36 chr12: 110,646,841-110,789,516 , GRCh37 chr12: 112,162,458-112,305,133 MIR6761, MAPKAPK5, 3 more genes
    nsv3920155copy number variation1nstd102humanUncertain significance NCBI36 chr8: 2,337,312-2,781,866 , GRCh38 chr8: 2,605,460-2,936,937 , GRCh37 chr8: 2,498,609-2,794,459 LOC107986865, LINC03021, 2 more genes
    nsv3892279copy number variation1nstd102humanPathogenic NCBI36 chr2: 115,776,113-129,545,173 , GRCh37 chr2: 116,059,643-129,828,703 , GRCh38 chr2: 115,302,067-129,071,130 MAP3K2, RPL27P7, 144 more genes
    nsv3923799copy number variation1nstd102humanPathogenic GRCh38 chr18: 41,722,823-49,043,887 , GRCh37 chr18: 39,302,787-46,570,257 , NCBI36 chr18: 37,556,785-44,824,255 RNU6-1278P, RNA5SP454, 81 more genes
    nsv3922263copy number variation1nstd102humanPathogenic NCBI36 chr9: 124,897,698-128,495,943 , GRCh38 chr9: 123,095,598-126,693,843 , GRCh37 chr9: 125,857,877-129,456,122 OLFML2A, LHX2-AS1, 64 more genes
    nsv3924299copy number variation1nstd102humanPathogenic GRCh37 chr14: 100,260,674-101,410,904 , GRCh38 chr14: 99,794,337-100,944,567 , NCBI36 chr14: 99,330,427-100,480,657 MIR433, RN7SKP92, 48 more genes
    nsv3914499copy number variation1nstd102humanPathogenic GRCh37 chr6: 170,088,905-170,892,302 , GRCh38 chr6: 169,688,809-170,583,214 , NCBI36 chr6: 169,830,830-170,734,227 LOC105378149, LOC285804, 25 more genes
    nsv3920188copy number variation1nstd102humanPathogenic NCBI36 chr9: 3,581,159-9,351,786 , GRCh38 chr9: 3,591,159-9,361,786 , GRCh37 chr9: 3,591,159-9,361,786 RANBP6, INSL4, 76 more genes
    nsv3909973copy number variation1nstd102humanPathogenic GRCh37 chr5: 87,493,549-92,528,869 , GRCh38 chr5: 88,197,732-93,193,163 , NCBI36 chr5: 87,529,305-92,554,625 LINC02161, LINC01339, 42 more genes
    nsv3890307copy number variation1nstd102humanBenign NCBI36 chr1: 158,296,040-158,453,926 , GRCh37 chr1: 160,029,416-160,187,302 , GRCh38 chr1: 160,059,626-160,217,512 ATP1A2, ATP1A4, 7 more genes
    nsv3917149copy number variation1nstd102humanUncertain significance GRCh37 chr6: 99,218,523-100,260,987 , GRCh38 chr6: 98,770,647-99,813,111 , NCBI36 chr6: 99,325,244-100,367,708 PNKY, PNISR-AS1, 12 more genes
    nsv3915484copy number variation1nstd102humanUncertain significance NCBI36 chr13: 19,104,540-19,477,257 , GRCh37 chr13: 20,206,540-20,579,257 , GRCh38 chr13: 19,632,400-20,005,117 ST6GALNAC4P1, ZMYM5, 4 more genes
    nsv3922944copy number variation1nstd102humanUncertain significance NCBI36 chr17: 19,587,938-21,442,522 , GRCh37 chr17: 19,647,346-21,501,929 , GRCh38 chr17: 19,744,033-21,598,663 RNU6-258P, CCDC144NL, 61 more genes
    nsv3890720copy number variation1nstd102humanUncertain significance NCBI36 chr1: 233,004,948-234,144,072 , GRCh38 chr1: 234,802,578-235,914,149 , GRCh37 chr1: 234,938,325-236,077,449 MTND3P8, RBM34, 31 more genes
    nsv3909863copy number variation1nstd102humanUncertain significance GRCh38 chr17: 21,416,753-22,176,920 , GRCh37 chr17: 21,381,527-21,703,526 , NCBI36 chr17: 21,260,658-21,627,655 NCOR1P2, LOC100287309, 9 more genes
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