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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3875884copy number variation2nstd102humanPathogenic, Conflicting interpretations of pathogenicity GRCh37 chr19: 11,227,675-11,238,683 , GRCh38.p12 chr19: 11,116,999-11,128,007 LDLR
    nsv3885542copy number variation2nstd102humanPathogenic, Conflicting interpretations of pathogenicity GRCh37 chr19: 11,211,022-11,217,240 , GRCh38.p12 chr19: 11,100,346-11,106,564 LDLR
    nsv3878324copy number variation2nstd102humanPathogenic, Conflicting interpretations of pathogenicity GRCh37 chr19: 11,240,188-11,240,347 , GRCh38.p12 chr19: 11,129,512-11,129,671 LDLR
    nsv3890003copy number variation2nstd102humanPathogenic, Conflicting interpretations of pathogenicity GRCh38 chr19: 11,110,652-11,110,771 , GRCh37.p13 chr19: 11,221,328-11,221,447 LDLR
    nsv3902360copy number variation1nstd102humanConflicting interpretations of pathogenicity GRCh37 chr2: 84,669-206,271 , NCBI36 chr2: 74,669-196,271 , GRCh38 chr2: 84,669-206,271 LOC105373324
    nsv3886494copy number variation2nstd102humanUncertain significance, Conflicting interpretations of pathogenicity GRCh37 chrX: 153,295,879-153,296,118 , GRCh38 chrX: 154,030,428-154,030,667 MECP2
    nsv1397965copy number variation1nstd102humanConflicting interpretations of pathogenicity GRCh37 chr2: 47,709,918-47,710,088 , GRCh38 chr2: 47,482,779-47,482,949 MSH2
    nsv3916432copy number variation1nstd102humanConflicting interpretations of pathogenicity GRCh37 chr15: 102,226,242-102,263,418 , NCBI36 chr15: 100,043,765-100,080,941 , GRCh38 chr15: 101,686,039-101,723,215 TARS3
    nsv5060025copy number variation1nstd102humanConflicting interpretations of pathogenicity GRCh37 chr19: 11,235,956-11,235,957 , GRCh38 chr19: 11,125,280-11,125,281 LDLR
    nsv3889968copy number variation2nstd102humanConflicting interpretations of pathogenicity, Likely pathogenic GRCh37 chr19: 11,212,181-11,219,759 , GRCh38.p12 chr19: 11,101,505-11,109,083 LDLR
    nsv3876626copy number variation2nstd102humanConflicting interpretations of pathogenicity, Likely pathogenic GRCh37 chr19: 11,236,353-11,241,151 , GRCh38.p12 chr19: 11,125,677-11,130,475 LDLR
    nsv3883282copy number variation2nstd102humanConflicting interpretations of pathogenicity, Likely pathogenic GRCh37 chr19: 11,216,759-11,217,715 , GRCh38.p12 chr19: 11,106,083-11,107,039 LDLR
    nsv3877397copy number variation2nstd102humanPathogenic, Conflicting interpretations of pathogenicity GRCh37 chr19: 11,200,038-11,213,339 , GRCh38.p12 chr19: 11,089,362-11,102,663 LDLR, LDLR-AS1
    nsv3870648copy number variation2nstd102humanPathogenic, Conflicting interpretations of pathogenicity GRCh37 chr19: 11,222,316-11,233,849 , GRCh38.p12 chr19: 11,111,640-11,123,173 LDLR, MIR6886
    nsv3887026copy number variation2nstd102humanPathogenic, Conflicting interpretations of pathogenicity GRCh37 chr19: 11,224,439-11,230,767 , GRCh38.p12 chr19: 11,113,763-11,120,091 LDLR, MIR6886
    nsv3918581copy number variation1nstd102humanConflicting interpretations of pathogenicity GRCh37 chr11: 97,720,768-98,309,787 , NCBI36 chr11: 97,225,978-97,814,997 , GRCh38 chr11: 97,849,768-98,439,058 LOC100289416, LINC02713
    nsv3888576copy number variation1nstd102humanConflicting interpretations of pathogenicity GRCh37 chr19: 11,200,292-11,221,327 , GRCh38 chr19: 11,089,616-11,110,651 LDLR, LDLR-AS1
    nsv3885442copy number variation2nstd102humanUncertain significance, Conflicting interpretations of pathogenicity GRCh37 chr19: 11,218,191-11,225,603 , GRCh38.p12 chr19: 11,107,515-11,114,927 LDLR, MIR6886
    nsv3918116copy number variation1nstd102humanConflicting interpretations of pathogenicity GRCh37 chr6: 61,971,892-62,877,253 , NCBI36 chr6: 62,029,851-62,935,212 , GRCh38 chr6: 61,468,685-62,167,348 KHDRBS2, MTRNR2L9
    nsv3920887copy number variation1nstd102humanConflicting interpretations of pathogenicity GRCh37 chr15: 32,098,670-32,426,869 , NCBI36 chr15: 29,885,962-30,214,161 , GRCh38 chr15: 31,806,467-32,134,668 CHRNA7, OTUD7A
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