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Items: 1 to 20 of 219

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148054copy number variation1nstd102humanPathogenic GRCh37 chr1: 142,535,935-157,648,813 , GRCh38.p12 chr1: 120,175,847-149,601,750 , TRN-GTT12-1, 266 more genes
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6138586copy number variation1nstd206human GRCh38 chr1: 120,579,835-120,924,200 , GRCh37.p13 chr1|NW_003871056.3: 651,409-995,774 , PPIAL4A, 8 more genes
    nsv6138512copy number variation1nstd206human GRCh38 chr1: 120,861,000-120,903,000 , GRCh37.p13 chr1|NW_003871056.3: 932,574-974,574 , GRCh37.p13 chr1: 149,524,248-149,566,257 PPIAL4A
    nsv6138400copy number variation1nstd206human GRCh37.p13 chr1|NW_003871056.3: 788,973-961,991 , GRCh38 chr1: 120,717,399-120,890,417 , PPIAL4A, 5 more genes
    nsv5981014copy number variation1nstd212human GRCh38 chr1: 120,873,039-120,888,644 , GRCh37.p13 chr1|NW_003871056.3: 944,613-960,218 PPIAL4A
    nsv5980880copy number variation1nstd212human GRCh38 chr1: 120,889,426-120,889,503 , GRCh37.p13 chr1|NW_003871056.3: 961,000-961,077 PPIAL4A
    nsv5964788insertion1nstd209human GRCh38 chr1: 120,889,487-120,889,487 , GRCh37.p13 chr1|NW_003871056.3: 961,061-961,061 PPIAL4A
    nsv5827740copy number variation2nstd209human GRCh38 chr1: 120,878,126-120,894,118 , GRCh37.p13 chr1|NW_003871056.3: 949,700-965,692 PPIAL4A
    nsv5427936copy number variation1nstd206human GRCh37.p13 chr1|NW_003871056.3: 897,409-995,409 , GRCh38 chr1: 120,825,835-120,923,835 , GRCh37.p13 chr1: 149,509,647-149,587,125 PPIAL4A, LINC00623, 4 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5219473copy number variation1nstd204human GRCh38.p13 chr1: 120,869,901-120,899,600 , GRCh37.p13 chr1|NW_003871056.3: 941,475-971,174 , GRCh37.p13 chr1: 149,533,150-149,562,855 PPIAL4A
    nsv5219121copy number variation1nstd204human GRCh38.p13 chr1: 120,878,210-120,893,639 , GRCh37.p13 chr1|NW_003871056.3: 949,784-965,213 PPIAL4A
    nsv5217972copy number variation1nstd204human GRCh38.p13 chr1: 120,890,501-120,893,700 , GRCh37.p13 chr1|NW_003871056.3: 962,075-965,274 PPIAL4A
    nsv5214115copy number variation1nstd204human GRCh38.p13 chr1: 120,890,201-120,897,000 , GRCh37.p13 chr1|NW_003871056.3: 961,775-968,574 PPIAL4A
    nsv5212985copy number variation1nstd204human GRCh38.p13 chr1: 120,576,301-120,923,900 , GRCh37.p13 chr1|NW_003871056.3: 647,875-995,474 , LOC105378944, 8 more genes
    nsv5212599copy number variation1nstd204human GRCh37.p13 chr1|NW_003871056.3: 745,875-995,574 , GRCh38.p13 chr1: 120,674,301-120,924,000 , PPIAL4A, 7 more genes
    nsv5209154copy number variation1nstd204human GRCh37.p13 chr1|NW_003871056.3: 905,475-988,674 , GRCh37.p13 chr1: 149,509,647-149,580,350 , GRCh38.p13 chr1: 120,833,901-120,917,100 PPIAL4A, LINC00623, 4 more genes
    nsv5208843copy number variation1nstd204human GRCh38.p13 chr1: 120,881,701-120,888,200 , GRCh37.p13 chr1|NW_003871056.3: 953,275-959,774 PPIAL4A
    nsv5206837copy number variation1nstd204human GRCh38.p13 chr1: 120,887,701-120,890,700 , GRCh37.p13 chr1|NW_003871056.3: 959,275-962,274 PPIAL4A
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