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Results: 1 to 20 of 82

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Number of Variants: 20

Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
nsv995428copy number variation1nstd37humanLikely pathogenic GRCh37 (hg19) chr1: 11,081,808-15,563,167 , GRCh38 chr1: 11,021,751-15,236,671 , NCBI36 (hg18) chr1: 11,004,395-15,435,754 NPPA-AS1, MIR4632, 70 more genes
nsv993553copy number variation1nstd37humanPathogenic GRCh37 (hg19) chr1: 10,324,455-16,107,335 , GRCh38 chr1: 10,264,397-15,780,840 , NCBI36 (hg18) chr1: 10,247,042-15,979,922 NPPA-AS1, APITD1-CORT, 94 more genes
nsv984836copy number variation2nstd11humannot provided GRCh37 (hg19) chr1: 61,735-249,224,388 , NCBI36 (hg18) chr1: 51,598-247,191,011 , GRCh38 chr1: 61,735-248,930,189 AKT3, MIR942, 2550 more genes
nsv984625complex1nstd92human GRCh37 (hg19) chr1: 82,154-51,782,000 TRNAN-GUU, TRNAE-UUC, 788 more genes
esv3389105copy number variation8estd59human NCBI36 (hg18) chr1: 11,949,177-11,951,725 , GRCh37 (hg19) chr1: 12,026,590-12,029,138 , GRCh38 chr1: 11,966,533-11,969,081 PLOD1
esv3362071copy number variation8estd59human NCBI36 (hg18) chr1: 11,952,577-11,955,125 , GRCh37 (hg19) chr1: 12,029,990-12,032,538 , GRCh38 chr1: 11,969,933-11,972,481 PLOD1
esv3350737copy number variation1estd59human NCBI36 (hg18) chr1: 14,123-35,577,628 , GRCh37 (hg19) chr1: 24,260-35,805,041 , GRCh38 chr1: 24,260-35,339,440 TRNAN-GUU, TRNAE-UUC, 580 more genes
esv3339158copy number variation65estd59human NCBI36 (hg18) chr1: 11,953,302-11,954,550 , GRCh37 (hg19) chr1: 12,030,715-12,031,963 , GRCh38 chr1: 11,970,658-11,971,906 PLOD1
esv3331573copy number variation1estd59human NCBI36 (hg18) chr1: 11,952,802-11,955,000 , GRCh37 (hg19) chr1: 12,030,215-12,032,413 , GRCh38 chr1: 11,970,158-11,972,356 PLOD1
esv2989491copy number variation1estd209human GRCh37 (hg19) chr1: 12,002,042-12,002,043 , GRCh38 chr1: 11,941,985-11,941,986 PLOD1
esv2989493copy number variation1estd209human GRCh37 (hg19) chr1: 12,004,479-12,004,481 , GRCh38 chr1: 11,944,422-11,944,424 PLOD1
esv2990791insertion1estd209human GRCh37 (hg19) chr1: 12,003,035-12,003,035 , GRCh38 chr1: 11,942,978-11,942,978 PLOD1
nsv959730copy number variation2nstd86human GRCh37 (hg19) chr1: 12,020,701-12,030,875 , GRCh38 chr1: 11,960,644-11,970,818 PLOD1
nsv959101copy number variation1nstd86human GRCh37 (hg19) chr1: 12,024,230-12,027,150 , GRCh38 chr1: 11,964,173-11,967,093 PLOD1
nsv955252copy number variation1nstd73human GRCh37 (hg19) chr1: 12,023,101-12,026,300 , GRCh38 chr1: 11,963,044-11,966,243 PLOD1
nsv949714copy number variation1nstd85human NCBI35 (hg17) chr1: 4,468,386-12,509,356 , GRCh37 (hg19) chr1: 4,558,013-12,575,090 , GRCh38 chr1: 4,497,953-12,515,038 NPPA-AS1, MIR1273D, 96 more genes
nsv949283copy number variation1nstd85human NCBI35 (hg17) chr1: 9,061,724-20,945,280 , GRCh38 chr1: 9,067,399-20,873,481 , GRCh37 (hg19) chr1: 9,127,458-21,199,974 TRNAN-GUU, TRNAE-UUC, 203 more genes
nsv948818copy number variation1nstd85human NCBI35 (hg17) chr1: 11,410,807-15,376,955 , GRCh37 (hg19) chr1: 11,476,541-15,631,649 , GRCh38 chr1: 11,416,484-15,305,153 NPPA-AS1, MIR4632, 63 more genes
nsv948658copy number variation1nstd85human NCBI35 (hg17) chr1: 3,717,804-15,345,391 , GRCh38 chr1: 3,778,083-15,273,589 , GRCh37 (hg19) chr1: 3,694,647-15,600,085 LINC01134, NPPA-AS1, 142 more genes
nsv932210copy number variation1nstd37humanPathogenic NCBI36 (hg18) chr1: 9,411,184-16,014,873 , GRCh37 (hg19) chr1: 9,488,597-16,142,286 , GRCh38 chr1: 9,428,538-15,815,791 NPPA-AS1, MIR1273D, 107 more genes

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