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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 EFNA1, ACTA1, 2233 more genes
    nsv3917016copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 EFNA1, BGLAP, 153 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 EFNA1, ACTA1, 2231 more genes
    nsv3909898inversion1nstd102humanLikely pathogenic GRCh37 (hg19) chr1: 154,130,985-156,843,877 , GRCh38.p12 chr1: 154,158,509-156,874,085 , NCBI36 (hg18) chr1: 152,397,609-155,110,501 EFNA1, BGLAP, 137 more genes
    nsv3906950copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr1: 154,566,501-157,624,084 , GRCh37.p13 chr1: 154,538,977-157,593,874 , NCBI36 (hg18) chr1: 152,805,601-155,860,498 EFNA1, EFNA4, 132 more genes
    nsv3906070copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr1: 154,575,689-155,292,901 , GRCh37.p13 chr1: 154,548,165-155,262,692 , NCBI36 (hg18) chr1: 152,814,789-153,529,316 EFNA1, ADAR, 37 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 (hg38) chr1: 149,854,269-180,267,197 , GRCh37.p13 chr1: 150,440,214-180,236,332 , NCBI36 (hg18) chr1: 148,092,455-178,502,955 EFNA1, ADAR, 931 more genes
    nsv3890833copy number variation1nstd102humanUncertain significance GRCh38 (hg38) chr1: 155,006,546-155,464,263 , GRCh37.p13 chr1: 154,979,022-155,434,054 , NCBI36 (hg18) chr1: 153,245,646-153,700,678 EFNA1, MTX1P1, 32 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 (hg19) chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , NCBI36 (hg18) chr1: 72,017-247,185,615 EFNA1, ABCA4, 5105 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 (hg19) chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , NCBI36 (hg18) chr1: 839,330-247,191,307 EFNA1, ADORA1, 5062 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 (hg19) chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , NCBI36 (hg18) chr1: 37,714-247,195,072 EFNA1, ABL2, 5109 more genes
    nsv3870644copy number variation1nstd102humanLikely pathogenic GRCh37 (hg19) chr1: 153,751,465-156,660,462 , GRCh38.p12 chr1: 153,778,989-156,690,670 , NCBI36 (hg18) chr1: 152,018,089-154,927,086 EFNA1, BGLAP, 146 more genes
    nsv3132424copy number variation1nstd151human GRCh37 (hg19) chr1: 155,100,451-155,112,811 , GRCh38.p12 chr1: 155,127,975-155,140,335 EFNA1, SLC50A1, 1 more genes
    nsv3121333copy number variation1nstd151human GRCh37 (hg19) chr1: 155,105,976-155,112,811 , GRCh38.p12 chr1: 155,133,500-155,140,335 EFNA1, DPM3, 1 more genes
    esv4010193copy number variation1estd233human GRCh37 (hg19) chr1: 145,382,000-157,403,000 , GRCh38.p12 chr1: 120,440,553-149,583,533 EFNA1, ADAR, 612 more genes
    nsv2779107copy number variation1nstd37humanPathogenic NCBI36 (hg18) chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 EFNA1, BGLAP, 153 more genes
    nsv2772868copy number variation2nstd37humanPathogenic GRCh37 (hg19) chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , NCBI36 (hg18) chr1: 839,330-247,191,307 EFNA1, RNU6-239P, 5062 more genes
    nsv2770146copy number variation1nstd37humanPathogenic NCBI36 (hg18) chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 EFNA1, ADORA2BP1, 2231 more genes
    nsv2768399copy number variation1nstd37humanPathogenic NCBI36 (hg18) chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 EFNA1, ADORA1, 2233 more genes
    esv3820876copy number variation1estd219human GRCh37 (hg19) chr1: 155,020,179-155,147,639 , GRCh38.p12 chr1: 155,047,703-155,175,163 EFNA1, HMGN2P18, 9 more genes
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