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Variant : CV73558 (GRCh38/hg38 20p13(chr20:1551830-1883860)x3) Homo sapiens

Symbol: CV73558
Name: GRCh38/hg38 20p13(chr20:1551830-1883860)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052757]|See cases [RCV000052757]
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: SIRPB1   SIRPD   SIRPG   SIRPG-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_1551830)_(1883860_?)dup
NC_000020.10:g.(?_1532476)_(1864506_?)dup
NC_000020.9:g.(?_1480476)_(1812506_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38201,551,830 - 1,883,860CLINVAR
GRCh37201,532,476 - 1,864,506CLINVAR
Build 36201,480,476 - 1,812,506CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619730
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.