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Items: 1 to 20 of 239

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7095514copy number variation1nstd102humanPathogenic GRCh37 chr1: 229,567,246-231,413,288 , GRCh38.p12 chr1: 229,431,499-231,277,542 NUP133-DT, URB2, 42 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7044901inversion1nstd229human GRCh38 chr1: 229,516,995-229,530,338 , GRCh37.p13 chr1: 229,652,742-229,666,085 ABCB10
    nsv7042899inversion1nstd229human GRCh38 chr1: 228,807,456-232,597,605 , GRCh37.p13 chr1: 228,943,203-232,733,351 LOC102723935, LOC107985357, 73 more genes
    nsv6673517copy number variation1nstd229human GRCh38 chr1: 229,559,355-229,562,609 , GRCh37.p13 chr1: 229,695,102-229,698,356 ABCB10
    nsv6671664copy number variation1nstd229human GRCh38 chr1: 229,534,423-229,579,255 , GRCh37.p13 chr1: 229,670,170-229,715,002 RNU4-21P, ABCB10, 2 more genes
    nsv6670489copy number variation1nstd229human GRCh38 chr1: 227,575,489-231,747,964 , GRCh37.p13 chr1: 227,763,190-231,883,710 FAM89A, RNA5S14, 127 more genes
    nsv6668127copy number variation1nstd229human GRCh38 chr1: 229,521,868-229,527,461 , GRCh37.p13 chr1: 229,657,615-229,663,208 ABCB10
    nsv6666578copy number variation1nstd229human GRCh38 chr1: 229,502,301-229,562,900 , GRCh37.p13 chr1: 229,638,048-229,698,647 RNA5SP78, RNU4-21P, 3 more genes
    nsv6665949copy number variation1nstd229human GRCh38 chr1: 228,830,419-229,937,200 , GRCh37.p13 chr1: 228,966,166-230,072,947 RAB4A-AS1, HMGN2P19, 24 more genes
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6636265copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 227,992,928-236,659,905 , GRCh38.p12 chr1: 227,805,227-236,496,605 ACTA1, AGT, 211 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6549900inversion1nstd223human GRCh38 chr1: 229,174,803-232,234,539 , GRCh37.p13 chr1: 229,310,550-232,370,285 EXOC8, KIAA1191P3, 67 more genes
    nsv6545405inversion1nstd223human GRCh38 chr1: 229,524,894-229,525,686 , GRCh37.p13 chr1: 229,660,641-229,661,433 ABCB10
    nsv6544322inversion1nstd223human GRCh38 chr1: 229,559,457-229,560,438 , GRCh37.p13 chr1: 229,695,204-229,696,185 ABCB10
    nsv6539446inversion1nstd223human GRCh38 chr1: 229,520,130-229,522,040 , GRCh37.p13 chr1: 229,655,877-229,657,787 ABCB10
    nsv6313841copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,214,912-231,483,538 , GRCh38.p12 chr1: 228,027,211-231,347,792 ISCA1P2, LOC100288703, 105 more genes
    nsv6313700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 226,131,690-231,908,227 , GRCh38.p12 chr1: 225,943,990-231,772,481 ACTA1, PARP1, 167 more genes
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