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Items: 1 to 20 of 379

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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
    nsv6696894copy number variation1nstd229human GRCh38 chr2: 187,517,101-187,519,300 , GRCh37.p13 chr2: 188,381,828-188,384,027 CALCRL-AS1, TFPI
    nsv6694584copy number variation1nstd229human GRCh38 chr2: 187,517,428-187,603,087 , GRCh37.p13 chr2: 188,382,155-188,467,814 TFPI, CALCRL-AS1
    nsv6691932copy number variation1nstd229human GRCh38 chr2: 187,517,201-187,520,600 , GRCh37.p13 chr2: 188,381,928-188,385,327 CALCRL-AS1, TFPI
    nsv6689321copy number variation1nstd229human GRCh38 chr2: 187,519,701-187,525,000 , GRCh37.p13 chr2: 188,384,428-188,389,727 CALCRL-AS1, TFPI
    nsv6688399copy number variation1nstd229human GRCh38 chr2: 187,519,577-187,525,047 , GRCh37.p13 chr2: 188,384,304-188,389,774 TFPI, CALCRL-AS1
    nsv6687099copy number variation1nstd229human GRCh38 chr2: 187,307,234-187,492,347 , GRCh37.p13 chr2: 188,171,961-188,357,074 CALCRL, CALCRL-AS1, 2 more genes
    nsv6686959copy number variation1nstd229human GRCh38 chr2: 187,532,201-187,543,100 , GRCh37.p13 chr2: 188,396,928-188,407,827 CALCRL-AS1, TFPI
    nsv6682842copy number variation1nstd229human GRCh38 chr2: 187,527,347-187,533,135 , GRCh37.p13 chr2: 188,392,074-188,397,862 CALCRL-AS1, TFPI
    nsv6682783copy number variation1nstd229human GRCh38 chr2: 187,519,601-187,526,200 , GRCh37.p13 chr2: 188,384,328-188,390,927 TFPI, CALCRL-AS1
    nsv6681351copy number variation1nstd229human GRCh38 chr2: 183,760,744-188,740,800 , GRCh37.p13 chr2: 184,625,471-189,605,527 MIR548AE1, LOC105373781, 42 more genes
    nsv6636571copy number variation1nstd102humanPathogenic GRCh37 chr2: 187,152,754-199,960,525 , GRCh38.p12 chr2: 186,288,027-199,095,802 GAPDHP59, OSGEPL1-AS1, 135 more genes
    nsv6636201copy number variation1nstd102humanUncertain significance GRCh37 chr2: 187,466,416-188,487,473 , GRCh38.p12 chr2: 186,601,689-187,622,746 CALCRL, ITGAV, 8 more genes
    nsv6553612inversion1nstd223human GRCh38 chr2: 187,521,856-187,522,798 , GRCh37.p13 chr2: 188,386,583-188,387,525 CALCRL-AS1, TFPI
    nsv6548079inversion1nstd223human GRCh38 chr2: 178,157,654-187,669,944 , GRCh37.p13 chr2: 179,022,381-188,534,671 RNU7-104P, RN7SKP42, 90 more genes
    nsv6541859inversion1nstd223human GRCh38 chr2: 187,539,970-187,540,618 , GRCh37.p13 chr2: 188,404,697-188,405,345 TFPI, CALCRL-AS1
    nsv6355043copy number variation1nstd223human GRCh38 chr2: 187,523,001-187,525,200 , GRCh37.p13 chr2: 188,387,728-188,389,927 TFPI, CALCRL-AS1
    nsv6354536copy number variation1nstd223human GRCh38 chr2: 187,523,501-187,524,500 , GRCh37.p13 chr2: 188,388,228-188,389,227 CALCRL-AS1, TFPI
    nsv6353754copy number variation1nstd223human GRCh38 chr2: 187,497,248-187,497,613 , GRCh37.p13 chr2: 188,361,975-188,362,340 CALCRL-AS1, TFPI
    nsv6350138copy number variation1nstd223human GRCh38 chr2: 187,497,901-187,499,600 , GRCh37.p13 chr2: 188,362,628-188,364,327 CALCRL-AS1, TFPI
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