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Variant : CV72072 (GRCh38/hg38 14q32.33(chr14:105987551-106259807)x1) Homo sapiens

Symbol: CV72072
Name: GRCh38/hg38 14q32.33(chr14:105987551-106259807)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051186]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051186]|See cases [RCV000051186]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: IGH   IGHV1-18   IGHV1-3   IGHV2-5   IGHV3-11   IGHV3-13   IGHV3-15   IGHV3-16   IGHV3-20   IGHV3-21   IGHV3-64D   IGHV3-7   IGHV4-4   IGHV5-10-1   IGHV7-4-1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000014.9:g.(?_105987551)_(106259807_?)del
NC_000014.8:g.(?_106453638)_(106716404_?)del
NC_000014.7:g.(?_105524683)_(105787449_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3814105,987,551 - 106,259,807CLINVAR
GRCh3714106,453,638 - 106,716,404CLINVAR
Build 3614105,524,683 - 105,787,449CLINVAR
Cytogenetic Map1414q32.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618226
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.