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Items: 1 to 20 of 38

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096672copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,258,534-61,275,905 , GRCh38.p12 chr2: 61,031,399-61,048,770 PEX13
    nsv7096518copy number variation2nstd102humanUncertain significance GRCh37 chr2: 61,272,841-61,275,905 , GRCh38.p12 chr2: 61,045,706-61,048,770 PEX13
    nsv6311517copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,244,895-61,275,905 , GRCh38.p12 chr2: 61,017,760-61,048,770 PEX13, PUS10
    nsv6634319copy number variation1nstd102humanPathogenic GRCh38 chr2: 60,947,640-61,094,952 , GRCh37.p13 chr2: 61,174,775-61,322,087 PEX13, RNA5SP95, 2 more genes
    nsv3907428copy number variation1nstd102humanPathogenic NCBI36 chr2: 61,052,273-61,173,149 , GRCh37 chr2: 61,198,769-61,319,645 , GRCh38 chr2: 60,971,634-61,092,510 PEX13, RNA5SP95, 2 more genes
    nsv3882683copy number variation1nstd102humanBenign GRCh37 chr2: 61,271,844-61,368,778 , GRCh38.p12 chr2: 61,044,709-61,141,643 PEX13, SANBR, 2 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 PEX13, DAZAP2P1, 2991 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 PEX13, CYP1B1-AS1, 1649 more genes
    nsv3892726copy number variation1nstd102humanPathogenic NCBI36 chr2: 56,818,693-62,554,307 , GRCh38 chr2: 56,738,054-62,473,668 , GRCh37 chr2: 56,965,189-62,700,803 PEX13, RPS29P10, 66 more genes
    nsv3903187copy number variation1nstd102humanPathogenic NCBI36 chr2: 58,112,555-63,692,448 , GRCh38 chr2: 58,031,916-63,611,810 , GRCh37 chr2: 58,259,051-63,838,944 PEX13, RPL31P30, 76 more genes
    nsv3904784copy number variation1nstd102humanPathogenic NCBI36 chr2: 58,953,678-64,270,970 , GRCh37 chr2: 59,100,174-64,417,466 , GRCh38 chr2: 58,873,039-64,190,332 PEX13, UGP2, 79 more genes
    nsv3891231copy number variation1nstd102humanPathogenic GRCh38 chr2: 57,249,378-61,842,734 , NCBI36 chr2: 57,330,017-61,923,373 , GRCh37 chr2: 57,476,513-62,069,869 PEX13, SANBR, 52 more genes
    nsv3902458copy number variation1nstd102humanPathogenic GRCh37 chr2: 59,885,981-62,563,218 , NCBI36 chr2: 59,739,485-62,416,722 , GRCh38 chr2: 59,658,846-62,336,083 PEX13, MIR4432, 48 more genes
    nsv3891542copy number variation1nstd102humanPathogenic NCBI36 chr2: 59,305,637-61,702,349 , GRCh38 chr2: 59,224,998-61,621,710 , GRCh37 chr2: 59,452,133-61,848,845 PEX13, SANBR, 36 more genes
    nsv6636424copy number variation1nstd102humanPathogenic GRCh37 chr2: 61,215,497-61,714,418 , GRCh38.p12 chr2: 60,988,362-61,487,283 PEX13, PUS10, 11 more genes
    nsv997086copy number variation1nstd45humanPathogenic GRCh38.p12 chr2: 58,912,065-62,261,736 , GRCh37 chr2: 59,139,200-62,488,871 PEX13, ATP1B3P1, 52 more genes
    nsv7096671copy number variation2nstd102humanUncertain significance, Pathogenic GRCh38.p12 chr2: 60,881,841-61,048,770 , GRCh37 chr2: 61,108,976-61,275,905 PEX13, REL, 5 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 PEX13, LOC112268439, 3737 more genes
    nsv3874648copy number variation1nstd102humanPathogenic GRCh37 chr2: 15,672-243,101,834 , GRCh38.p12 chr2: 15,672-242,157,305 PEX13, IGKV2OR2-10, 3737 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 PEX13, RNU6-674P, 3735 more genes
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