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Items: 1 to 20 of 94

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5036421inversion1nstd200human GRCh38 chr5: 85,193,812-162,906,830 , GRCh37.p13 chr5: 84,489,630-162,333,836 , PRR16, 1116 more genes
    nsv4947215copy number variation1nstd200human GRCh38 chr5: 93,957,557-155,223,076 , GRCh37.p13 chr5: 93,293,262-154,602,636 , TGFBI, 937 more genes
    nsv4939173copy number variation1nstd200human GRCh38 chr5: 150,441,262-150,442,058 , GRCh37.p13 chr5: 149,820,825-149,821,621 RPS14
    nsv4885569inversion1nstd200human GRCh37 chr5: 84,489,636-162,333,841 , GRCh38.p12 chr5: 85,193,818-162,906,835 , UBE2B, 1116 more genes
    nsv4590380copy number variation1nstd183human GRCh37 chr5: 149,822,555-149,822,938 , GRCh38.p12 chr5: 150,442,992-150,443,375 RPS14
    nsv4559417mobile element insertion1nstd166human GRCh37.p13 chr5: 149,829,408-149,829,408 , GRCh38.p12 chr5: 150,449,845-150,449,845 RPS14
    nsv3971381insertion1nstd168human GRCh38 chr5: 150,447,032-150,457,538 , GRCh37.p13 chr5: 149,826,595-149,837,101 RPS14
    nsv3923414copy number variation1nstd102humanPathogenic GRCh37 chr5: 130,196,621-154,701,371 , NCBI36 chr5: 130,224,520-154,681,564 , GRCh38 chr5: 130,860,928-155,321,811 HNRNPA3P7, RNU6-456P, 514 more genes
    nsv3921182copy number variation1nstd102humanPathogenic GRCh37 chr5: 149,094,155-180,699,152 , GRCh38 chr5: 149,714,592-181,272,151 , NCBI36 chr5: 149,074,348-180,631,758 RN7SKP148, TCOF1, 553 more genes
    nsv3918432copy number variation1nstd102humanUncertain significance GRCh38 chr5: 150,356,455-150,688,333 , NCBI36 chr5: 149,716,211-150,048,088 , GRCh37 chr5: 149,736,018-150,067,895 CD74, NDST1-AS1, 6 more genes
    nsv3914878copy number variation1nstd102humanPathogenic NCBI36 chr5: 146,520,648-163,194,778 , GRCh37.p13 chr5: 146,540,455-163,262,200 , GRCh38.p12 chr5: 147,160,892-163,835,194 LOC105378231, RN7SKP232, 247 more genes
    nsv3914009copy number variation1nstd102humanPathogenic NCBI36 chr5: 129,211,386-152,713,299 , GRCh38 chr5: 129,847,794-153,353,546 , GRCh37 chr5: 129,183,487-152,733,106 UQCRQ, SNHG4, 489 more genes
    nsv3912937copy number variation1nstd102humanPathogenic GRCh37 chr5: 105,955,289-155,551,397 , NCBI36 chr5: 105,983,188-155,483,975 , GRCh38 chr5: 106,619,588-156,124,387 LINC01023, CTB-99A3.1, 783 more genes
    nsv3912593copy number variation1nstd102humanUncertain significance NCBI36 chr5: 332,389-180,837,866 , GRCh37.p13 chr5: 279,389-180,905,260 , GRCh38.p12 chr5: 279,274-181,478,259 LOC105378993, LOC107986375, 2492 more genes
    nsv3889848copy number variation1nstd102humanPathogenic GRCh37 chr5: 17,628,741-176,575,720 , GRCh38.p12 chr5: 17,628,632-177,148,719 MEGF10, LOC100128407, 2080 more genes
    nsv3886374copy number variation1nstd102humanPathogenic GRCh37 chr5: 13,648-180,905,029 , GRCh38.p12 chr5: 13,648-181,478,028 LOC105374618, HARS1, 2499 more genes
    nsv3884357copy number variation2nstd102humanPathogenic GRCh37 chr5: 86,400,000-154,000,000 , GRCh38.p12 chr5: 87,104,183-154,620,440 TXNDC15, PCDHAC1, 962 more genes
    nsv3884275copy number variation1nstd102humanLikely benign GRCh37 chr5: 94,844,077-178,830,410 , GRCh38.p12 chr5: 95,508,373-179,403,409 LOC107986368, PRELID3BP9, 1258 more genes
    nsv3878636copy number variation1nstd102humanPathogenic GRCh37 chr5: 130,125,085-157,574,910 , GRCh38.p12 chr5: 130,789,392-158,147,902 LOC100288484, IL4, 551 more genes
    nsv3875235copy number variation2nstd102humanPathogenic GRCh37 chr5: 113,577-180,719,789 , GRCh38.p12 chr5: 113,462-181,292,788 SPEF2, NDST1, 2490 more genes
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