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Items: 1 to 20 of 251

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094927copy number variation1nstd102humanPathogenic GRCh37 chr17: 8,146,283-8,146,486 , GRCh38.p12 chr17: 8,242,965-8,243,168 CTC1
    nsv6310201copy number variation1nstd102humanPathogenic GRCh37 chr17: 8,131,498-8,151,354 , GRCh38.p12 chr17: 8,228,180-8,248,036 CTC1, PFAS
    nsv3882497copy number variation1nstd102humanBenign GRCh37 chr6: 28,949,529-28,949,960 , GRCh38.p12 chr6: 28,981,752-28,982,183 TRF-GAA1-2, TRE-CTC1-6
    nsv3898439copy number variation1nstd102humanBenign NCBI36 chr1: 144,099,712-144,141,990 , GRCh37 chr1: 145,388,355-145,430,633 , GRCh38 chr1: 146,004,406-146,046,645 TRE-CTC1-1, HJV, 3 more genes
    nsv6310345copy number variation1nstd102humanPathogenic GRCh37 chr17: 8,136,214-8,285,628 , GRCh38.p12 chr17: 8,232,896-8,382,310 CTC1, PFAS, 7 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 CRB1, STX6, 1608 more genes
    nsv3920683copy number variation1nstd102humanPathogenic NCBI36 chr6: 109,372,795-132,430,553 , GRCh37 chr6: 109,266,102-132,388,860 , GRCh38 chr6: 108,944,899-132,067,720 SSXP10, TRE-CTC1-7, 298 more genes
    nsv3924741copy number variation1nstd102humanPathogenic GRCh37 chr6: 106,951,594-126,102,365 , GRCh38 chr6: 106,503,719-125,781,219 , NCBI36 chr6: 107,058,287-126,144,058 LOC105377979, LOC105377936, 266 more genes
    nsv6315321copy number variation1nstd102humanPathogenic GRCh38 chr6: 115,941,808-133,892,653 , GRCh37.p13 chr6: 116,262,971-134,213,791 SLC18B1, ARHGAP18, 223 more genes
    nsv3889882copy number variation1nstd102humanPathogenic GRCh37 chr1: 159,815,642-177,026,983 , GRCh38.p12 chr1: 159,845,852-177,057,847 FMO4, RPL30P1, 403 more genes
    nsv7148249copy number variation1nstd102humanPathogenic GRCh38 chr6: 113,857,248-130,442,177 , GRCh37.p13 chr6: 114,178,427-130,763,322 TRDN-AS1, LOC100420743, 179 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv3924661copy number variation1nstd102humanPathogenic GRCh38 chr6: 115,601,230-128,514,324 , GRCh37 chr6: 115,922,394-128,835,469 , NCBI36 chr6: 116,029,087-128,877,162 MCM9, YWHAZP4, 146 more genes
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
    nsv3875316copy number variation1nstd102humanPathogenic GRCh37 chr6: 122,612,641-131,564,463 , GRCh38.p12 chr6: 122,291,495-131,243,323 TRDN, LOC105377992, 88 more genes
    nsv3906717copy number variation1nstd102humanPathogenic GRCh38 chr1: 159,479,887-166,895,086 , GRCh37 chr1: 159,449,677-166,864,323 , NCBI36 chr1: 157,716,301-165,130,947 NOS1AP, LY9, 220 more genes
    nsv3903429copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,126,513-147,699,831 , GRCh38 chr1: 143,515,074-149,563,337 , GRCh37 chr1: 145,415,156-149,433,207 PDZK1, LOC105369140, 216 more genes
    nsv6313868copy number variation1nstd102humanPathogenic GRCh37 chr6: 122,839,432-128,801,386 , GRCh38.p12 chr6: 122,518,287-128,480,241 TRMT11, HINT3, 61 more genes
    nsv6313604copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,417,296-166,197,042 , GRCh38.p12 chr1: 160,447,506-166,227,805 USF1, TRE-CTC1-3, 161 more genes
    nsv3892632copy number variation4nstd102humanPathogenic GRCh37 chr1: 145,747,242-149,155,026 , GRCh38 chr1: 143,515,074-149,076,087 , NCBI36 chr1: 144,458,599-147,421,650 LOC728989, MIR6077, 205 more genes
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