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Items: 1 to 20 of 361

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7098703complex chromosomal rearrangement6nstd230human GRCh37 chr2: 211,246,992-211,246,992 , GRCh37 chr2: 211,246,994-211,246,994 , GRCh37 chr9: 104,064,370-104,064,370 , GRCh37 chr9: 104,064,371-104,064,371 , GRCh37 chr18: 64,800,791-64,800,791 , GRCh37 chr18: 64,800,798-64,800,798 , GRCh37 chr18: 66,112,598-66,112,598 , GRCh37 chr18: 66,112,613-66,112,613 , GRCh37 chr18: 68,416,019-68,416,019 , GRCh37 chr18: 68,418,981-68,418,981 , GRCh37 chr18: 69,357,317-69,357,317 , GRCh37 chr18: 69,357,318-69,357,318 , GRCh38.p12 chr18: 67,133,554-67,133,554 , GRCh38.p12 chr18: 67,133,561-67,133,561 , GRCh38.p12 chr18: 68,445,361-68,445,361 , GRCh38.p12 chr18: 68,445,376-68,445,376 , GRCh38.p12 chr18: 70,748,783-70,748,783 , GRCh38.p12 chr18: 70,751,745-70,751,745 , GRCh38.p12 chr18: 71,690,081-71,690,081 , GRCh38.p12 chr18: 71,690,082-71,690,082 , GRCh38.p12 chr2: 210,382,268-210,382,268 , GRCh38.p12 chr2: 210,382,270-210,382,270 , GRCh38.p12 chr9: 101,302,088-101,302,088 , GRCh38.p12 chr9: 101,302,089-101,302,089 , GRCh38.p12 chr9|NT_187578.1: 353,291-353,291 , GRCh38.p12 chr9|NT_187578.1: 353,292-353,292 PLPPR1, LANCL1-AS1
    nsv7096604copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,636,797-213,403,254 , GRCh38.p12 chr2: 209,772,073-212,538,530 MTCO1P46, LOC100420775, 19 more genes
    nsv7053203inversion1nstd229human GRCh38 chr2: 210,394,840-210,401,179 , GRCh37.p13 chr2: 211,259,564-211,265,903 LANCL1-AS1
    nsv7052634inversion1nstd229human GRCh38 chr2: 210,370,962-210,371,017 , GRCh37.p13 chr2: 211,235,686-211,235,741 LANCL1-AS1
    nsv7048412inversion1nstd229human GRCh38 chr2: 210,395,295-210,398,925 , GRCh37.p13 chr2: 211,260,019-211,263,649 LANCL1-AS1
    nsv6697070copy number variation1nstd229human GRCh38 chr2: 210,364,658-210,370,678 , GRCh37.p13 chr2: 211,229,382-211,235,402 LANCL1-AS1
    nsv6696962copy number variation1nstd229human GRCh38 chr2: 210,352,201-210,356,600 , GRCh37.p13 chr2: 211,216,925-211,221,324 LANCL1-AS1
    nsv6695825copy number variation1nstd229human GRCh38 chr2: 210,318,440-210,330,257 , GRCh37.p13 chr2: 211,183,164-211,194,981 LANCL1-AS1
    nsv6693262copy number variation1nstd229human GRCh38 chr2: 210,464,685-210,464,987 , GRCh37.p13 chr2: 211,329,409-211,329,711 LANCL1-AS1, LANCL1
    nsv6691211copy number variation1nstd229human GRCh38 chr2: 210,345,301-210,350,600 , GRCh37.p13 chr2: 211,210,025-211,215,324 LANCL1-AS1
    nsv6688724copy number variation1nstd229human GRCh38 chr2: 210,401,401-210,406,400 , GRCh37.p13 chr2: 211,266,125-211,271,124 LANCL1-AS1
    nsv6688222copy number variation1nstd229human GRCh38 chr2: 210,380,987-210,381,022 , GRCh37.p13 chr2: 211,245,711-211,245,746 LANCL1-AS1
    nsv6687130copy number variation1nstd229human GRCh38 chr2: 210,330,480-210,337,176 , GRCh37.p13 chr2: 211,195,204-211,201,900 LANCL1-AS1
    nsv6686229copy number variation1nstd229human GRCh38 chr2: 210,423,201-210,425,700 , GRCh37.p13 chr2: 211,287,925-211,290,424 LANCL1-AS1
    nsv6685479copy number variation1nstd229human GRCh38 chr2: 210,469,201-210,471,400 , GRCh37.p13 chr2: 211,333,925-211,336,124 LANCL1-AS1, LANCL1
    nsv6683046copy number variation1nstd229human GRCh38 chr2: 210,330,668-210,333,203 , GRCh37.p13 chr2: 211,195,392-211,197,927 LANCL1-AS1
    nsv6683035copy number variation1nstd229human GRCh38 chr2: 210,447,639-210,447,816 , GRCh37.p13 chr2: 211,312,363-211,312,540 LANCL1, LANCL1-AS1
    nsv6682749copy number variation1nstd229human GRCh38 chr2: 210,390,223-210,393,200 , GRCh37.p13 chr2: 211,254,947-211,257,924 LANCL1-AS1
    nsv6679226copy number variation1nstd229human GRCh38 chr2: 210,360,801-210,372,200 , GRCh37.p13 chr2: 211,225,525-211,236,924 LANCL1-AS1
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