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Variant : CV72546 (GRCh38/hg38 11p15.5(chr11:196966-251588)x3) Homo sapiens

Symbol: CV72546
Name: GRCh38/hg38 11p15.5(chr11:196966-251588)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051693]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051693]|See cases [RCV000051693]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BET1L   MIR6743   ODF3   PSMD13   RIC8A   SIRT3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.9:g.(?_196966)_(251588_?)dup
NC_000011.8:g.(?_186966)_(241588_?)dup
NC_000011.10:g.(?_196966)_(251588_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811196,966 - 251,588CLINVAR
GRCh3711196,966 - 251,588CLINVAR
Build 3611186,966 - 241,588CLINVAR
Cytogenetic Map1111p15.5CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618706
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-31
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.