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Items: 1 to 20 of 197

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    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
    nsv7095591copy number variation2nstd102humanPathogenic GRCh37 chr1: 230,203,028-231,413,288 , GRCh38.p12 chr1: 230,067,281-231,277,542 CAPN9, TRIM67-AS1, 25 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
    nsv7044357inversion1nstd229human GRCh38 chr1: 230,487,375-232,830,868 , GRCh37.p13 chr1: 230,623,121-232,966,614 ARV1, C1orf131, 51 more genes
    nsv7042899inversion1nstd229human GRCh38 chr1: 228,807,456-232,597,605 , GRCh37.p13 chr1: 228,943,203-232,733,351 LOC102723935, LOC107985357, 73 more genes
    nsv6677071copy number variation1nstd229human GRCh38 chr1: 230,854,708-230,857,586 , GRCh37.p13 chr1: 230,990,454-230,993,332 C1orf198
    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
    nsv6670229copy number variation1nstd229human GRCh38 chr1: 230,847,601-230,872,100 , GRCh37.p13 chr1: 230,983,347-231,007,846 C1orf198
    nsv6668875copy number variation1nstd229human GRCh38 chr1: 230,482,037-231,277,187 , GRCh37.p13 chr1: 230,617,783-231,412,933 LOC644006, C1orf198, 23 more genes
    nsv6663287copy number variation1nstd229human GRCh38 chr1: 230,831,702-230,843,438 , GRCh37.p13 chr1: 230,967,448-230,979,184 C1orf198
    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
    nsv6333235copy number variation1nstd223human GRCh38 chr1: 230,091,353-232,880,145 , GRCh37.p13 chr1: 230,227,100-233,015,891 LOC105373196, RN7SL837P, 53 more genes
    nsv6325572copy number variation1nstd223human GRCh38 chr1: 230,482,037-231,277,187 , GRCh37.p13 chr1: 230,617,783-231,412,933 C1orf198, AGT, 23 more genes
    nsv6320098copy number variation1nstd223human GRCh38 chr1: 230,786,979-231,254,880 , GRCh37.p13 chr1: 230,922,725-231,390,626 MIR1182, ARV1, 15 more genes
    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
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