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Variant : CV72099 (GRCh38/hg38 13q12.11(chr13:21967730-22503640)x3) Homo sapiens

Symbol: CV72099
Name: GRCh38/hg38 13q12.11(chr13:21967730-22503640)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051214]|See cases [RCV000051214]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: LINC00540  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_21967730)_(22503640_?)dup
NC_000013.10:g.(?_22541869)_(23077779_?)dup
NC_000013.9:g.(?_21439869)_(21975779_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381321,967,730 - 22,503,640CLINVAR
GRCh371322,541,869 - 23,077,779CLINVAR
Build 361321,439,869 - 21,975,779CLINVAR
Cytogenetic Map1313q12.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618254
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
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.