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Results: 1 to 20 of 86

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Number of Variants: 20

Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
nsv1049627copy number variation1nstd100human NCBI36 (hg18) chr12: 60,383,411-66,552,813 , GRCh37 (hg19) chr12: 62,097,144-68,266,546 , GRCh38 (hg38) chr12: 61,703,363-67,872,766 MIR548Z, RNA5SP362, 33 more genes
nsv1039863copy number variation1nstd100human NCBI36 (hg18) chr12: 44,199,547-103,250,359 , GRCh37 (hg19) chr12: 45,913,280-104,726,229 , GRCh38 (hg38) chr12: 45,519,497-104,332,451 HOTAIR, KRT73-AS1, 550 more genes
nsv1038802copy number variation1nstd100human NCBI36 (hg18) chr12: 63,202,578-70,067,313 , GRCh37 (hg19) chr12: 64,916,311-71,781,046 , GRCh38 (hg38) chr12: 64,522,531-71,387,266 MIR1279, SNORA70G, 48 more genes
nsv997198copy number variation1nstd45humanPathogenic GRCh37 (hg19) chr12: 65,563,351-65,642,141 , GRCh38 (hg38) chr12: 65,169,571-65,248,361 , NCBI36 (hg18) chr12: 63,849,618-63,928,408 LEMD3
nsv984792copy number variation1nstd92human GRCh37 (hg19) chr12: 163,819-133,778,796 , GRCh38 (hg38) chr12: 54,653-133,202,210 TRF-GAA1-2, HOTAIR, 1210 more genes
nsv984745complex1nstd92human GRCh37 (hg19) chr12: 51,940,000-133,778,796 TRF-GAA1-2, HOTAIR, 731 more genes
nsv984743copy number variation1nstd92human GRCh37 (hg19) chr12: 163,819-133,778,796 , GRCh38 (hg38) chr12: 54,653-133,202,210 TRF-GAA1-2, HOTAIR, 1210 more genes
esv3425224copy number variation8estd59human NCBI36 (hg18) chr12: 63,848,477-63,851,325 , GRCh37 (hg19) chr12: 65,562,210-65,565,058 , GRCh38 chr12: 65,168,430-65,171,278 LEMD3
esv3388709copy number variation1estd59human NCBI36 (hg18) chr12: 63,888,648-63,888,897 , GRCh37 (hg19) chr12: 65,602,381-65,602,630 , GRCh38 chr12: 65,208,601-65,208,850 LEMD3
esv2904932insertion1estd209human GRCh37 (hg19) chr12: 65,609,707-65,609,707 , GRCh38 chr12: 65,215,927-65,215,927 LEMD3
esv3164001copy number variation1estd209human GRCh37 (hg19) chr12: 65,621,515-65,621,517 , GRCh38 chr12: 65,227,735-65,227,737 LEMD3
esv3163996copy number variation1estd209human GRCh37 (hg19) chr12: 65,565,610-65,565,612 , GRCh38 chr12: 65,171,830-65,171,832 LEMD3
esv3164002copy number variation1estd209human GRCh37 (hg19) chr12: 65,633,880-65,633,884 , GRCh38 chr12: 65,240,100-65,240,104 LEMD3
esv3164000copy number variation1estd209human GRCh37 (hg19) chr12: 65,614,959-65,614,960 , GRCh38 chr12: 65,221,179-65,221,180 LEMD3
esv3163999copy number variation1estd209human GRCh37 (hg19) chr12: 65,603,904-65,603,908 , GRCh38 chr12: 65,210,124-65,210,128 LEMD3
esv3163998copy number variation1estd209human GRCh37 (hg19) chr12: 65,601,615-65,601,616 , GRCh38 chr12: 65,207,835-65,207,836 LEMD3
esv3163997copy number variation1estd209human GRCh37 (hg19) chr12: 65,601,228-65,601,231 , GRCh38 chr12: 65,207,448-65,207,451 LEMD3
nsv952197copy number variation1nstd73human GRCh37 (hg19) chr12: 65,564,601-65,604,500 , GRCh38 (hg38) chr12: 65,170,821-65,210,720 LEMD3
nsv949134copy number variation1nstd85human NCBI35 (hg17) chr12: 50,446-132,387,995 , GRCh37 (hg19) chr12: 180,185-133,777,645 , GRCh38 chr12: 71,019-133,201,059 TRNAF2, HOTAIR, 1202 more genes
nsv948931copy number variation1nstd85human GRCh37 (hg19) chr12: 58,800,399-68,344,973 , NCBI35 (hg17) chr12: 57,086,666-66,631,240 , GRCh38 chr12: 58,406,616-67,951,193 MIR548Z, RNA5SP362, 35 more genes

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