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Items: 1 to 20 of 141

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099192copy number variation1nstd231human GRCh38.p12 chr1: 31,395,299-32,087,194 , GRCh37 chr1: 31,868,146-32,552,795 ADGRB2, COL16A1, 19 more genes
    nsv7055568inversion1nstd229human GRCh38 chr1: 31,513,394-31,828,725 , GRCh37.p13 chr1: 32,017,064-32,294,326 PEF1-AS1, LOC101929444, 9 more genes
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv7044103inversion1nstd229human GRCh38 chr1: 26,905,652-33,050,814 , GRCh37.p13 chr1: 27,232,143-33,516,415 ADGRB2, SNORA16A, 169 more genes
    nsv6648709copy number variation1nstd229human GRCh38 chr1: 31,211,928-31,733,962 , GRCh37.p13 chr1: 31,684,775-32,199,563 PEF1, EEF1A1P46, 18 more genes
    nsv6648675copy number variation1nstd229human GRCh38 chr1: 31,547,606-31,588,810 , GRCh37.p13 chr1: 32,017,064-32,054,411 TINAGL1, LOC105378626
    nsv6648661copy number variation1nstd229human GRCh38 chr1: 31,235,267-31,736,466 , GRCh37.p13 chr1: 31,708,114-32,202,067 ZCCHC17, NKAIN1, 18 more genes
    nsv6648226copy number variation1nstd229human GRCh38 chr1: 31,574,507-31,618,097 , GRCh37.p13 chr1: 32,040,108-32,083,698 LOC105378626, HCRTR1, 1 more genes
    nsv6320753copy number variation1nstd223human GRCh38 chr1: 31,578,312-31,578,885 , GRCh37.p13 chr1: 32,043,913-32,044,486 TINAGL1, LOC105378626
    nsv6313753copy number variation1nstd102humanUncertain significance GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520 DCDC2B, SNRNP40, 130 more genes
    nsv6226133insertion1nstd214human GRCh38 chr1: 31,579,063-31,579,063 , GRCh37.p13 chr1: 32,044,664-32,044,664 TINAGL1
    nsv6216663insertion2nstd214human GRCh38 chr1: 31,579,040-31,579,040 , GRCh37.p13 chr1: 32,044,641-32,044,641 TINAGL1
    nsv6133773copy number variation1nstd213human GRCh37 chr1: 31,350,000-33,290,001 , GRCh38.p12 chr1: 30,877,153-32,824,400 ADGRB2, COL16A1, 62 more genes
    nsv5983786copy number variation1nstd212human GRCh38 chr1: 31,580,190-31,580,251 , GRCh37.p13 chr1: 32,045,791-32,045,852 TINAGL1
    nsv5983586copy number variation1nstd212human GRCh38 chr1: 30,209,364-32,642,526 , GRCh37.p13 chr1: 30,682,211-33,108,127 , HDAC1, 69 more genes
    nsv5607543insertion1nstd207human GRCh38 chr1: 31,578,877-31,578,877 , GRCh37.p13 chr1: 32,044,478-32,044,478 TINAGL1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4742634copy number variation1nstd199human GRCh37 chr1: 32,045,770-32,045,830 , GRCh38.p12 chr1: 31,580,169-31,580,229 TINAGL1
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