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Items: 17

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    Number of Variants: 17

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3892597copy number variation1nstd102humanLikely benign GRCh37 chr12: 45,097,478-45,169,681 , GRCh38.p12 chr12: 44,703,695-44,775,898 NELL2
    nsv3921330copy number variation1nstd102humanPathogenic GRCh37 chr12: 41,107,689-46,945,683 , GRCh38 chr12: 40,713,887-46,551,900 , NCBI36 chr12: 39,393,956-45,231,950 NELL2, RACGAP1P1, 61 more genes
    nsv6634445copy number variation1nstd102humanPathogenic GRCh37 chr12: 44,661,149-48,921,204 , GRCh38.p12 chr12: 44,267,366-48,527,421 NELL2, ZNF641, 77 more genes
    nsv3916928copy number variation1nstd102humanPathogenic NCBI36 chr12: 42,194,761-46,386,352 , GRCh37.p13 chr12: 43,908,494-48,100,085 , GRCh38.p12 chr12: 43,514,691-47,706,302 NELL2, RPAP3-DT, 51 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 NELL2, RNA5SP369, 2454 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 NELL2, LOH12CR2, 2452 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 NELL2, RNU4ATAC16P, 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 NELL2, BTG1P1, 2451 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 NELL2, OR5BT1P, 2441 more genes
    nsv1398632copy number variation1nstd102humanPathogenic GRCh37 chr12: 31,886,971-50,360,461 , GRCh38.p12 chr12: 31,734,037-49,966,678 NELL2, TUBB8P5, 252 more genes
    nsv3898591copy number variation1nstd102humanPathogenic GRCh37 chr12: 37,857,750-49,791,459 , GRCh38.p12 chr12: 37,463,948-49,397,676 NELL2, ZNF75BP, 195 more genes
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 NELL2, ADCY6, 187 more genes
    nsv3914794copy number variation1nstd102humanLikely benign GRCh37 chr12: 43,871,403-45,213,896 , NCBI36 chr12: 42,157,670-43,500,163 , GRCh38 chr12: 43,477,600-44,820,113 NELL2, TWF1, 9 more genes
    nsv3909274copy number variation1nstd102humanUncertain significance GRCh37 chr12: 45,181,335-45,776,599 , GRCh38.p12 chr12: 44,787,552-45,382,816 NELL2, DBX2, 7 more genes
    nsv4728979copy number variation1nstd102humanUncertain significance GRCh37 chr12: 43,953,566-46,197,331 , GRCh38.p12 chr12: 43,559,763-45,803,548 NELL2, LOC400026, 21 more genes
    nsv3914227copy number variation1nstd102humanUncertain significance GRCh38 chr12: 43,514,638-44,793,576 , GRCh37 chr12: 43,908,441-45,187,359 , NCBI36 chr12: 42,194,708-43,473,626 NELL2, TMEM117, 9 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 NELL2, ASIC1, 491 more genes
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