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Items: 1 to 20 of 245

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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
    nsv7096389copy number variation1nstd102humanPathogenic GRCh37 chr2: 189,839,216-189,839,314 , GRCh38.p12 chr2: 188,974,490-188,974,588 LOC105373791, COL3A1
    nsv7096120copy number variation1nstd102humanUncertain significance GRCh37 chr2: 189,849,903-189,957,166 , GRCh38.p12 chr2: 188,985,177-189,092,440 LOC105373791, COL5A2, 2 more genes
    nsv7096119copy number variation2nstd102humanUncertain significance GRCh37 chr2: 189,839,216-192,012,929 , GRCh38.p12 chr2: 188,974,490-191,148,203 NAB1, ANKAR, 38 more genes
    nsv7096118copy number variation2nstd102humanPathogenic GRCh37 chr2: 189,839,216-190,044,330 , GRCh38.p12 chr2: 188,974,490-189,179,604 COL3A1, COL5A2, 5 more genes
    nsv6696955copy number variation1nstd229human GRCh38 chr2: 188,958,752-188,973,218 , GRCh37.p13 chr2: 189,823,478-189,837,944 LOC105373791, COL3A1
    nsv6688686copy number variation1nstd229human GRCh38 chr2: 188,928,431-188,966,387 , GRCh37.p13 chr2: 189,793,157-189,831,113 LOC105373791
    nsv6683778copy number variation1nstd229human GRCh38 chr2: 188,372,807-189,341,797 , GRCh37.p13 chr2: 189,237,534-190,206,523 LOC105373790, MIR3606, 9 more genes
    nsv6636599copy number variation1nstd102humanUncertain significance GRCh37 chr2: 189,846,654-189,953,960 , GRCh38.p12 chr2: 188,981,928-189,089,234 COL3A1, LOC105373791, 2 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
    nsv6350088copy number variation1nstd223human GRCh38 chr2: 188,967,401-188,968,700 , GRCh37.p13 chr2: 189,832,127-189,833,426 LOC105373791
    nsv6345085copy number variation1nstd223human GRCh38 chr2: 188,964,134-188,964,572 , GRCh37.p13 chr2: 189,828,860-189,829,298 LOC105373791
    nsv6344001copy number variation1nstd223human GRCh38 chr2: 188,978,688-188,979,298 , GRCh37.p13 chr2: 189,843,414-189,844,024 COL3A1, LOC105373791
    nsv6340673copy number variation1nstd223human GRCh38 chr2: 188,928,431-188,966,382 , GRCh37.p13 chr2: 189,793,157-189,831,108 LOC105373791
    nsv6336527copy number variation1nstd223human GRCh38 chr2: 188,885,101-188,993,000 , GRCh37.p13 chr2: 189,749,827-189,857,726 COL3A1, MIR1245A, 2 more genes
    nsv6315398copy number variation1nstd102humanPathogenic GRCh37 chr2: 185,697,659-213,002,074 , GRCh38.p12 chr2: 184,832,932-212,137,349 LOC107985785, MYO1B, 381 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6157477copy number variation1nstd214human GRCh38 chr2: 188,980,353-188,980,404 , GRCh37.p13 chr2: 189,845,079-189,845,130 LOC105373791, COL3A1
    nsv6155139copy number variation1nstd214human GRCh38 chr2: 188,980,353-188,980,430 , GRCh37.p13 chr2: 189,845,079-189,845,156 COL3A1, LOC105373791
    nsv5987197copy number variation1nstd212human GRCh38 chr2: 188,980,372-188,980,423 , GRCh37.p13 chr2: 189,845,098-189,845,149 COL3A1, LOC105373791
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