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Variant : CV158442 (GRCh38/hg38 9p23(chr9:9114504-12196201)x3) Homo sapiens

Symbol: CV158442
Name: GRCh38/hg38 9p23(chr9:9114504-12196201)x3
Condition: See cases [RCV000137759]
Clinical Significance: conflicting data from submitters
Last Evaluated: 08/20/2012
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: AL513422.1   PTPRD   PTPRD-AS2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_9114504)_(12196201_?)dup
NC_000009.11:g.(?_9114504)_(12196201_?)dup
NC_000009.10:g.(?_9104504)_(12186201_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3899,114,504 - 12,196,201CLINVAR
GRCh3799,114,504 - 12,196,201CLINVAR
Build 3699,104,504 - 12,186,201CLINVAR
Cytogenetic Map99p23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485311
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.