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Variant : CV163593 (GRCh38/hg38 1q44(chr1:245963305-246590116)x3) Homo sapiens

Symbol: CV163593
Name: GRCh38/hg38 1q44(chr1:245963305-246590116)x3
Condition: See cases [RCV000142085]
Clinical Significance: uncertain significance
Last Evaluated: 09/23/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CNST   LINC01743   LOC110121251   SMYD3   SMYD3-AS1   TFB2M  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_245963305)_(246590116_?)dup
NC_000001.10:g.(?_246126607)_(246753418_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381245,963,305 - 246,590,116CLINVAR
GRCh371246,126,607 - 246,753,418CLINVAR
Build 361244,193,230 - 244,820,041CLINVAR
Cytogenetic Map11q44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489605
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.