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Items: 1 to 20 of 268

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095031copy number variation2nstd102humanPathogenic GRCh37 chr16: 56,226,148-58,768,132 , GRCh38.p12 chr16: 56,192,236-58,734,228 MT1B, LOC105371293, 92 more genes
    nsv7094854copy number variation1nstd102humanPathogenic GRCh37 chr16: 56,917,770-56,918,126 , GRCh38.p12 chr16: 56,883,858-56,884,214 SLC12A3
    nsv7094853copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 56,911,979-56,927,219 , GRCh38.p12 chr16: 56,878,067-56,893,307 SLC12A3
    nsv7094679copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 56,921,827-56,927,219 , GRCh38.p12 chr16: 56,887,915-56,893,307 SLC12A3
    nsv7094588copy number variation1nstd102humanPathogenic GRCh37 chr16: 56,897,620-56,906,303 , GRCh38.p12 chr16: 56,863,708-56,872,391 SLC12A3
    nsv7093479delins1nstd102humanLikely pathogenic GRCh38 chr16: 56,877,967-56,878,100 , GRCh37 chr16: 56,911,879-56,912,012 SLC12A3
    nsv7063904inversion1nstd229human GRCh38 chr16: 54,352,554-57,044,545 , GRCh37.p13 chr16: 54,386,466-57,078,457 LOC102725116, OGFOD1, 65 more genes
    nsv6995299copy number variation1nstd229human GRCh38 chr16: 56,804,583-56,915,726 , GRCh37.p13 chr16: 56,838,495-56,949,638 MIR6863, RPS24P17, 3 more genes
    nsv6993825copy number variation1nstd229human GRCh38 chr16: 56,890,257-56,890,433 , GRCh37.p13 chr16: 56,924,169-56,924,345 SLC12A3
    nsv6993306copy number variation1nstd229human GRCh38 chr16: 56,915,573-56,916,098 , GRCh37.p13 chr16: 56,949,485-56,950,010 SLC12A3
    nsv6992272copy number variation1nstd229human GRCh38 chr16: 56,911,671-56,914,082 , GRCh37.p13 chr16: 56,945,583-56,947,994 SLC12A3
    nsv6984063copy number variation1nstd229human GRCh38 chr16: 56,905,338-56,918,079 , GRCh37.p13 chr16: 56,939,250-56,951,991 SLC12A3, RPS24P17
    nsv6983637copy number variation1nstd229human GRCh38 chr16: 56,882,421-56,889,767 , GRCh37.p13 chr16: 56,916,333-56,923,679 SLC12A3
    nsv6982324copy number variation1nstd229human GRCh38 chr16: 56,881,127-56,885,699 , GRCh37.p13 chr16: 56,915,039-56,919,611 SLC12A3
    nsv6982174copy number variation1nstd229human GRCh38 chr16: 56,863,767-56,872,395 , GRCh37.p13 chr16: 56,897,679-56,906,307 SLC12A3
    nsv6980966copy number variation1nstd229human GRCh38 chr16: 56,880,126-56,883,805 , GRCh37.p13 chr16: 56,914,038-56,917,717 SLC12A3
    nsv6978795copy number variation1nstd229human GRCh38 chr16: 56,868,584-56,873,523 , GRCh37.p13 chr16: 56,902,496-56,907,435 SLC12A3
    nsv6637586copy number variation1nstd102humanPathogenic GRCh37 chr16: 46,503,573-62,203,182 , GRCh38.p12 chr16: 46,469,661-62,169,278 LINC02140, LOC100130602, 279 more genes
    nsv6636060copy number variation1nstd102humanLikely pathogenic GRCh37 chr16: 56,899,118-56,906,295 , GRCh38.p12 chr16: 56,865,206-56,872,383 SLC12A3
    nsv6585636inversion1nstd223human GRCh38 chr16: 56,907,070-56,908,423 , GRCh37.p13 chr16: 56,940,982-56,942,335 RPS24P17, SLC12A3
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