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Items: 1 to 20 of 157

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3877772copy number variation1nstd102humanPathogenic GRCh38 chr8: 86,667,104-86,675,513 , GRCh37 chr8: 87,679,332-87,687,741 CNGB3
    nsv3882863copy number variation1nstd102humanPathogenic GRCh38 chr12: 47,983,546-47,986,866 , GRCh37 chr12: 48,377,329-48,380,649 COL2A1
    nsv7093052copy number variation1nstd102humanPathogenic GRCh37 chr8: 145,638,780-145,639,772 , GRCh38 chr8: 144,413,396-144,414,388 SLC39A4
    nsv7136969copy number variation1nstd102humanPathogenic GRCh37 chrX: 110,653,301-110,653,993 , GRCh38 chrX: 111,410,073-111,410,765 DCX
    nsv6634620copy number variation1nstd102humanPathogenic GRCh38 chrX: 149,504,059-149,504,211 , GRCh37 chrX: 148,585,589-148,585,741 IDS
    nsv3883919copy number variation1nstd102humanPathogenic GRCh37 chr17: 10,533,098-10,533,212 , GRCh38 chr17: 10,629,781-10,629,895 MYH3
    nsv6634602copy number variation1nstd102humanPathogenic GRCh38 chrX: 154,030,600-154,030,699 , GRCh37 chrX: 153,296,051-153,296,150 MECP2
    nsv7093269copy number variation1nstd102humanPathogenic GRCh37 chr5: 92,920,819-92,920,882 , GRCh38 chr5: 93,585,113-93,585,176 NR2F1
    nsv6634534copy number variation1nstd102humanPathogenic GRCh38 chrX: 154,030,612-154,030,667 , GRCh37 chrX: 153,296,063-153,296,118 MECP2
    nsv3886824copy number variation3nstd102humanPathogenic, Likely pathogenic GRCh38 chrX: 154,030,618-154,030,669 , GRCh37 chrX: 153,296,069-153,296,120 MECP2
    nsv3914557copy number variation1nstd102humanPathogenic GRCh37 chrX: 153,287,264-153,363,188 , GRCh38.p12 chrX: 154,021,813-154,097,731 MECP2
    nsv3919420insertion1nstd102humanPathogenic GRCh37 chr2: 25,387,621-25,387,621 , GRCh38 chr2: 25,164,752-25,164,752 POMC
    nsv7093435delins1nstd102humanPathogenic GRCh37 chrX: 153,294,516-153,296,126 , GRCh38 chrX: 154,029,065-154,030,675 MECP2
    nsv4685783delins1nstd102humanPathogenic GRCh37 chrX: 155,214,885-155,216,016 , GRCh37 chrY: 59,317,891-59,319,022 , GRCh38 chrX: 155,985,220-155,986,351 , GRCh38 chrY: 57,171,740-57,172,871 TRPC6P1
    nsv6634689delins1nstd102humanPathogenic GRCh37 chrX: 153,296,089-153,296,220 , GRCh38 chrX: 154,030,638-154,030,769 MECP2
    nsv6634719delins1nstd102humanPathogenic GRCh37 chrX: 153,296,123-153,296,172 , GRCh38 chrX: 154,030,672-154,030,721 MECP2
    nsv7093265copy number variation1nstd102humanLikely pathogenic GRCh37 chr13: 102,379,105-102,380,405 , GRCh38 chr13: 101,726,755-101,728,055 FGF14
    nsv6634617copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 153,296,426-153,296,528 , GRCh38 chrX: 154,030,975-154,031,077 MECP2
    nsv6634727delins1nstd102humanLikely pathogenic GRCh37 chrX: 153,296,147-153,296,374 , GRCh38 chrX: 154,030,696-154,030,923 MECP2
    nsv6634539copy number variation1nstd102humanBenign GRCh38 chr15: 92,972,558-92,972,870 , GRCh37 chr15: 93,515,788-93,516,100 CHD2
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