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Items: 1 to 20 of 119

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099205copy number variation1nstd231human GRCh38.p12 chr1: 53,166,972-54,495,490 , GRCh37 chr1: 53,632,644-54,961,163 CPT2, DIO1, 32 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv6651690copy number variation1nstd229human GRCh38 chr1: 53,435,819-53,439,484 , GRCh37.p13 chr1: 53,901,492-53,905,157 LOC105378733, SLC25A3P1
    nsv6325160copy number variation1nstd223human GRCh38 chr1: 53,435,819-53,439,484 , GRCh37.p13 chr1: 53,901,492-53,905,157 SLC25A3P1, LOC105378733
    nsv6295166copy number variation1nstd186human GRCh37 chr1: 53,901,492-53,905,157 , GRCh38.p12 chr1: 53,435,819-53,439,484 LOC105378733, SLC25A3P1
    nsv5877042copy number variation1nstd209human GRCh38 chr1: 53,435,817-53,439,483 , GRCh37.p13 chr1: 53,901,490-53,905,156 LOC105378733, SLC25A3P1
    nsv5830366copy number variation1nstd209human GRCh38 chr1: 53,435,741-53,439,925 , GRCh37.p13 chr1: 53,901,414-53,905,598 LOC105378733, SLC25A3P1
    nsv5423463copy number variation1nstd206human GRCh38 chr1: 53,435,819-53,439,484 , GRCh37.p13 chr1: 53,901,492-53,905,157 SLC25A3P1, LOC105378733
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv4890220copy number variation1nstd200human GRCh38 chr1: 53,435,819-53,439,484 , GRCh37.p13 chr1: 53,901,492-53,905,157 LOC105378733, SLC25A3P1
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783267copy number variation1nstd200human GRCh37 chr1: 53,901,492-53,905,157 , GRCh38.p12 chr1: 53,435,819-53,439,484 LOC105378733, SLC25A3P1
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    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
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4045625copy number variation1nstd166human GRCh37.p13 chr1: 53,901,492-53,905,157 , GRCh38.p12 chr1: 53,435,819-53,439,484 LOC105378733, SLC25A3P1
    nsv3961046copy number variation1nstd168human GRCh38 chr1: 53,404,110-53,436,433 , GRCh37.p13 chr1: 53,869,782-53,902,106 SLC25A3P1
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