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Items: 1 to 20 of 107

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5461461copy number variation1nstd206human GRCh38 chr5: 150,652,608-150,670,289 , GRCh37.p13 chr5: 150,032,170-150,049,851 MYOZ3, SYNPO
    nsv5457228copy number variation1nstd206human GRCh38 chr5: 150,679,826-150,682,952 , GRCh37.p13 chr5: 150,059,388-150,062,514 MYOZ3
    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
    nsv4939183copy number variation1nstd200human GRCh38 chr5: 150,662,117-150,665,870 , GRCh37.p13 chr5: 150,041,679-150,045,432 MYOZ3
    nsv4885569inversion1nstd200human GRCh37 chr5: 84,489,636-162,333,841 , GRCh38.p12 chr5: 85,193,818-162,906,835 , UBE2B, 1116 more genes
    nsv4814969copy number variation1nstd200human GRCh37 chr5: 150,041,679-150,045,432 , GRCh38.p12 chr5: 150,662,117-150,665,870 MYOZ3
    nsv4590383copy number variation1nstd183human GRCh37 chr5: 150,040,926-150,040,974 , GRCh38.p12 chr5: 150,661,364-150,661,412 MYOZ3
    nsv4590249copy number variation1nstd183human GRCh37 chr5: 150,058,753-150,079,999 , GRCh38.p12 chr5: 150,679,191-150,700,437 RBM22, MYOZ3
    nsv4119010copy number variation1nstd166human GRCh37.p13 chr5: 150,050,416-150,050,539 , GRCh38.p12 chr5: 150,670,854-150,670,977 MYOZ3
    nsv4118497copy number variation1nstd166human GRCh37.p13 chr5: 150,053,748-150,053,808 , GRCh38.p12 chr5: 150,674,186-150,674,246 MYOZ3
    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
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