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Items: 1 to 20 of 39

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3911475copy number variation1nstd102humanPathogenic GRCh38 chr6: 152,793,402-170,610,394 , GRCh37 chr6: 153,114,537-170,919,482 , NCBI36 chr6: 153,156,230-170,761,407 ACAT2, SNORA116, 275 more genes
    nsv3913213copy number variation1nstd102humanPathogenic GRCh38 chr6: 154,118,058-170,602,152 , NCBI36 chr6: 154,480,885-170,753,165 , GRCh37 chr6: 154,439,193-170,911,240 ACAT2, LDHAL6FP, 258 more genes
    nsv3921695copy number variation1nstd102humanPathogenic GRCh38 chr6: 154,539,655-170,714,507 , NCBI36 chr6: 154,902,481-170,865,520 , GRCh37 chr6: 154,860,789-171,023,595 ACAT2, LOC105378128, 255 more genes
    nsv6315428copy number variation1nstd102humanPathogenic GRCh37 chr6: 159,121,459-170,919,482 , GRCh38.p12 chr6: 158,700,427-170,610,394 ACAT2, TBP, 200 more genes
    nsv3921491copy number variation1nstd102humanPathogenic NCBI36 chr6: 159,795,661-170,763,014 , GRCh38 chr6: 159,454,639-170,612,001 , GRCh37 chr6: 159,875,671-170,921,089 ACAT2, LOC102724357, 183 more genes
    nsv1397956copy number variation1nstd102humanPathogenic NCBI36 chr6: 159,830,469-170,673,013 , GRCh37.p13 chr6: 159,910,479-170,831,088 , GRCh38.p12 chr6: 159,489,447-170,522,000 ACAT2, LOC107986675, 179 more genes
    nsv6313530copy number variation1nstd102humanPathogenic GRCh37 chr6: 153,207,930-164,322,346 , GRCh38.p12 chr6: 152,886,795-163,901,314 ACAT2, RSPH3, 144 more genes
    nsv6634356copy number variation1nstd102humanPathogenic GRCh37 chr6: 157,318,401-165,233,548 , GRCh38.p12 chr6: 156,997,267-164,820,059 ACAT2, LOC105378097, 103 more genes
    nsv3916251copy number variation1nstd102humanPathogenic GRCh38 chr6: 155,378,049-163,133,499 , NCBI36 chr6: 155,740,875-163,474,521 , GRCh37 chr6: 155,699,183-163,554,531 ACAT2, MAP3K4, 99 more genes
    nsv7097050copy number variation2nstd102humanPathogenic GRCh37 chr6: 158,532,398-162,868,359 , GRCh38.p12 chr6: 158,111,366-162,447,327 ACAT2, LOC107986665, 64 more genes
    nsv3912656copy number variation1nstd102humanPathogenic NCBI36 chr12: 48,802,409-51,928,511 , GRCh37 chr12: 50,516,142-53,642,244 , GRCh38 chr12: 50,122,359-53,248,460 KRT86, SLC11A2, 112 more genes
    nsv3912083copy number variation1nstd102humanPathogenic GRCh37 chr12: 53,493,442-54,118,309 , NCBI36 chr12: 51,779,709-52,404,576 , GRCh38 chr12: 53,099,658-53,724,525 EIF4A1P4, SP1, 30 more genes
    nsv3877040copy number variation1nstd102humanPathogenic GRCh37 chr6: 60,107-171,054,786 , GRCh38.p12 chr6: 60,107-170,745,698 ACAT2, LOC105378061, 2914 more genes
    nsv3879811copy number variation1nstd102humanPathogenic GRCh37 chr6: 108,666-170,980,171 , GRCh38.p12 chr6: 108,666-170,671,083 ACAT2, RNU6-411P, 2910 more genes
    nsv3887898copy number variation2nstd102humanPathogenic GRCh37 chr6: 156,975-170,919,482 , GRCh38.p12 chr6: 156,975-170,610,394 ACAT2, SOD1P1, 2905 more genes
    nsv3889814copy number variation1nstd102humanPathogenic GRCh37 chr6: 165,632-170,919,470 , GRCh38.p12 chr6: 165,632-170,610,382 ACAT2, ITPR3, 2905 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 RNA5SP369, ST13P22, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 LOH12CR2, OR8S21P, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 RNU4ATAC16P, PIGAP1, 2452 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 BTG1P1, LOC105370073, 2451 more genes
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